Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
paper
Cited
Public
- Authors
- Shihab, Hashem A; Gough, Julian; Cooper, David N; Stenson, Peter D; Barker, Gary L A; Edwards, Keith J; Day, Ian N M; Gaunt, Tom R
- Year
- 2013
- Journal
- Human mutation
- PMID
- 23033316
- DOI
- 10.1002/humu.22225
- PMCID
- PMC3558800
The rate at which nonsynonymous single nucleotide polymorphisms (nsSNPs) are being identified in the human genome is increasing dramatically owing to advances in whole-genome/whole-exome sequencing technologies. Automated methods capable of accurately and reliably distinguishing between pathogenic and functionally neutral nsSNPs are therefore assuming ever-increasing importance. Here, we describe the Functional Analysis Through Hidden Markov Models (FATHMM) software and server: a species-independent method with optional species-specific weightings for the prediction of the functional effects of protein missense variants. Using a model weighted for human mutations, we obtained performance accuracies that outperformed traditional prediction methods (i.e., SIFT, PolyPhen, and PANTHER) on two separate benchmarks. Furthermore, in one benchmark, we achieve performance accuracies that outperform current state-of-the-art prediction methods (i.e., SNPs&GO and MutPred). We demonstrate that FATHMM can be efficiently applied to high-throughput/large-scale human and nonhuman genome sequencing projects with the added benefit of phenotypic outcome associations. To illustrate this, we evaluated nsSNPs in wheat (Triticum spp.) to identify some of the important genetic variants responsible for the phenotypic differences introduced by intense selection during domestication. A Web-based implementation of FATHMM, including a high-throughput batch facility and a downloadable standalone package, is available at http://fathmm.biocompute.org.uk.
The distribution of the predicted magnitude of effect for disease-associated (shaded region) and functionally neutral (unshaded region) AASs in the SwissVar dataset using our unweighted and weighted methods (A and B, respectively). From this, we calculated prediction thresholds at which both specificity and sensitivity were maximized (β3.0 and β1.5, respectively).
Receiver operating characteristic (ROC) curves for the top-ranking computational prediction algorithms evaluated using the SwissVar dataset. Here, we compare our unweighted method against SIFT and PANTHER (Aβfull curve; Bβ10% false positive rate) whereas our weighted method is compared to SNPs&GO and MutPred (Cβfull curve; Dβ10% false positive rate). Full ROC curves for all computational prediction algorithms evaluated are made available in Supp. Figure S3.
The intersection of disease-associated amino acid substitutions correctly identified by the top-ranking computational prediction algorithms evaluated using the SwissVar dataset. Here, we compare our unweighted method against SIFT and PANTHER (A) whereas our weighted method is compared to SNPs&GO and MutPred (B).
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| Name | Type |
|---|---|
| 1000 Genomes Project | cohort |
| 304 local | cohort |
| 306 local | cohort |
| 311 local | cohort |
| 328 local | cohort |
| AAS local | variant |
| Align-GVGD local | drug |
| amino acid substitutions local | variant |
| Avalon local | cohort |
| Baking properties local | phenotype |
| baking_qualities local | phenotype |
| BRCA1 | gene |
| C1971Y local | variant |
| Cadenza local | cohort |
| cancer | phenotype |
| cardiovascular consequences local | phenotype |
| CHRNG | gene |
| CK2 beta subunit local | gene |
| computational prediction algorithms local | drug |
| cysteine_proteinase local | gene |
| Cysteine proteinase local | gene |
| decrease in fetal movement local | phenotype |
| Disease-associated local | phenotype |
| disease-associated AASs local | variant |
| disease-associated_variant local | variant |
| drought resistance local | phenotype |
| economic_yield local | phenotype |
| elite wheat varieties local | cohort |
| Elite wheat varieties local | cohort |
| Escobar syndrome local | phenotype |
| FATHMM local | drug |
| FBN1 local | gene |
| Flower developmental stages local | phenotype |
| Flowering time regulation local | phenotype |
| Functionally neutral local | phenotype |
| functionally neutral AASs local | variant |
| functionally neutral polymorphisms local | variant |
| functionally_neutral_variant local | variant |
| HGMD local | cohort |
| HGMD local | drug |
| Hicks dataset local | cohort |
| high-throughput sequencing technologies local | drug |
| high yield local | phenotype |
| Human Phenotype Ontology local | phenotype |
| KullbackβLeibler divergence local | drug |
| Landrace wheat local | cohort |
| landrace wheat varieties local | cohort |
| Mammalian Phenotype Ontology local | phenotype |
| Marfan syndrome local | phenotype |
| missense_variant local | variant |
| MLH1 | gene |
| MSH2 | gene |
| muscle weakness local | phenotype |
| MutPred local | drug |
| nonsynonymous single nucleotide polymorphisms local | variant |
| PANTHER local | drug |
| pathogen resistance local | phenotype |
| pest resistance local | phenotype |
| Pfam | drug |
| Pfam-A local | drug |
| Pfam-B local | drug |
| plant_structure_development local | phenotype |
| PolyPhen-1 local | drug |
| R239C local | variant |
| Rialto local | cohort |
| Savannah local | cohort |
| SIFT | drug |
| single nucleotide variant | variant |
| SNP_09781_368 local | variant |
| SNP_368 local | variant |
| SNP_F0Z7V0F01D2DA5_172 local | variant |
| SNP_GIZP4PP04H5FGF_219 local | variant |
| SNPs&GO local | drug |
| starch local | drug |
| Starch properties local | phenotype |
| Starch quantity local | phenotype |
| Starch synthase local | gene |
| storage_proteins local | drug |
| SUPERFAMILY local | drug |
| SwissProt | drug |
| SwissVar local | cohort |
| SwissVar local | drug |
| SwissVar dataset local | cohort |
| SwissVar mutation dataset local | cohort |
| temperature regulation abnormalities local | phenotype |
| TP53 | gene |
| TrEMBL local | drug |
| UniProt | cohort |
| UniProt local | drug |
| VariBench local | cohort |
| VariBench benchmark local | cohort |
| Vegetative growth local | phenotype |
| wheat_contig_09781 local | variant |
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| Computational repurposing of oncology drugs through off-target drug binding interactions from pharmacological databases. | Walpole IR et al. | β | 2024 | β |
| Detailed Clinical Features of <i>PTPRQ</i>-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. | Sakuma N et al. | β | 2024 | β |
| Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations. | Kooshavar D et al. | β | 2024 | β |
| Enhancing Missense Variant Pathogenicity Prediction with MissenseNet: Integrating Structural Insights and ShuffleNet-Based Deep Learning Techniques. | Liu J et al. | β | 2024 | β |
| Enhancing missense variant pathogenicity prediction with protein language models using VariPred. | Lin W et al. | β | 2024 | β |
| Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. | Petrazzini BO et al. | β | 2024 | β |
| Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome. | Nagashima T et al. | β | 2024 | β |
| Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. | Copeland I et al. | β | 2024 | β |
| Exosome theranostics: Comparative analysis of P body and exosome proteins and their mutations for clinical applications. | Satheeshan G et al. | β | 2024 | β |
| Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient-derived orthotopic xenografts, cell lines and tumor entities. | Creus-Bachiller E et al. | β | 2024 | β |
| Exploring noncoding variants in genetic diseases: from detection to functional insights. | Wu K et al. | β | 2024 | β |
| Exploring somatic mutations in <i>BRAF</i>, <i>KRAS</i>, and <i>NRAS</i> as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification. | Aljuhani TA et al. | β | 2024 | β |
| FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction. | Tsishyn M et al. | β | 2024 | β |
| Flattening the curve-How to get better results with small deep-mutational-scanning datasets. | Wirnsberger G et al. | β | 2024 | β |
| Functional Characterization of Splice Variants in the Diagnosis of Albinism. | Diallo M et al. | β | 2024 | β |
| Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis. | Okubo S et al. | β | 2024 | β |
| Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications. | Hobara T et al. | β | 2024 | β |
| Genomic analysis of an aggressive hepatic leiomyosarcoma case following treatment for hepatocellular carcinoma. | Numata Y et al. | β | 2024 | β |
| Genomic Characterization of Preclinical Prostate Cancer Cell Line Models. | Beatson EL et al. | β | 2024 | β |
| Genomic landscape of gallbladder cancer: insights from whole exome sequencing. | Awasthi S et al. | β | 2024 | β |
| Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator. | Wei X et al. | β | 2024 | β |
| Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer. | Villacis RAR et al. | β | 2024 | β |
| Glioma genetic profiles associated with electrophysiologic hyperexcitability. | Tobochnik S et al. | β | 2024 | β |
| Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis. | Seidizadeh O et al. | β | 2024 | β |
| G protein-coupled receptor (GPCR) pharmacogenomics. | Thompson MD et al. | β | 2024 | β |
| GPTrans: A Biological Language Model-Based Approach for Predicting Disease-Associated Mutations in G Protein-Coupled Receptors. | Wang X et al. | β | 2024 | β |
| Identification and analysis of oncogenic non-synonymous single nucleotide polymorphisms in the human NRAS gene: An exclusive in silico study. | Mozibullah M et al. | β | 2024 | β |
| Identification and <i>in silico</i> structural analysis for the first <i>de novo</i> mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers. | Hosseini Nami A et al. | β | 2024 | β |
| Identification of osteoporosis genes using family studies. | Schembri M et al. | β | 2024 | β |
| Identifying Oncogenic Missense Single Nucleotide Polymorphisms in Human SAT1 Gene Using Computational Algorithms and Molecular Dynamics Tools. | Mozibullah M et al. | β | 2024 | β |
| Impact of <i>SLC22A1</i> rs12208357 on therapeutic response to metformin in type 2 diabetes patients. | Moazzami R et al. | β | 2024 | β |
| Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders. | Treccarichi S et al. | β | 2024 | β |
| INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome. | Wei Y et al. | β | 2024 | β |
| In-depth analysis of <i>OTC</i> A208T case induced by <i>OTC</i> gene mutation and research on the prediction and simulation of the impact on protein function. | Hu Q et al. | β | 2024 | β |
| Initiating-clone analysis in patients with acute myeloid leukemia secondary to essential thrombocythemia. | Ushijima Y et al. | β | 2024 | β |
| Integrative genomics identifies SHPRH as a tumor suppressor gene in lung adenocarcinoma that regulates DNA damage response. | Nagelberg AL et al. | β | 2024 | β |
| Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia. | Liquat N et al. | β | 2024 | β |
| <i>PTCH1</i> Gene Variants, mRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients. | Zambrano-RomΓ‘n M et al. | β | 2024 | β |
| m7GHub V2.0: an updated database for decoding the N7-methylguanosine (m7G) epitranscriptome. | Wang X et al. | β | 2024 | β |
| MODY Probability Calculator Is Suitable for MODY Screening in China: A Population-based Study. | Zhao J et al. | β | 2024 | β |
| Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy. | Pandey P et al. | β | 2024 | β |
| Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity. | Richards T et al. | β | 2024 | β |
| Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis. | Yasuhara J et al. | β | 2024 | β |
| Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). | Schmitz AS et al. | β | 2024 | β |
| PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner. | Zeng B et al. | β | 2024 | β |
| Phenotyping of cancer-associated somatic mutations in the BCL2 transmembrane domain. | Leiva D et al. | β | 2024 | β |
| Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective. | GarcΓa-Aznar JM et al. | β | 2024 | β |
| Population-scale variability of the human UDP-glycosyltransferase gene family. | GonzΓ‘lez-Padilla D et al. | β | 2024 | β |
| PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico. | Zambrano-RomΓ‘n M et al. | β | 2024 | β |
| Scrutiny of genome-wide somatic mutation profiles in centenarians identifies the key genomic regions for human longevity. | Wang HT et al. | β | 2024 | β |
| Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis. | Peng Y et al. | β | 2024 | β |
| Structural impact, ligand-protein interactions, and molecular phenotypic effects of TGF-Ξ²1 gene variants: In silico analysis with implications for idiopathic pulmonary fibrosis. | Bahia W et al. | β | 2024 | β |
| Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease. | Hauser BM et al. | β | 2024 | β |
| Synergic activity of FGFR2 and MEK inhibitors in the treatment of FGFR2-amplified cancers of unknown primary. | Cavazzoni A et al. | β | 2024 | β |
| Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication. | de Antonellis P et al. | β | 2024 | β |
| The Influence of a Genetic Variant in <i>CCDC78</i> on <i>LMNA</i>-Associated Skeletal Muscle Disease. | Mohar NP et al. | β | 2024 | β |
| Translocation in bone and soft tissue sarcomas: a comprehensive epidemiological investigation. | Kawaguchi K et al. | β | 2024 | β |
| Two compound heterozygous variants in the <i>CLN8</i> gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report. | Baltar F et al. | β | 2024 | β |
| Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study. | Mandler JM et al. | β | 2024 | β |
| Understanding large scale sequencing datasets through changes to protein folding. | Shorthouse D et al. | β | 2024 | β |
| Unraveling the function and structure impact of deleterious missense SNPs in the human OX1R receptor by computational analysis. | Farajzadeh-Dehkordi M et al. | β | 2024 | β |
| Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to <i>C9orf72</i> Repeat Expansions. | Longobardi A et al. | β | 2024 | β |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | β | 2024 | β |
| Variations in Furin SNPs, a Major Concern of SARS-CoV-2 Susceptibility Among Different Populations: An <i>In</i>-<i>Silico</i> Approach. | Uddin MN et al. | β | 2024 | β |
| Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications. | Skalniak A et al. | β | 2024 | β |
| Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. | Bansal V et al. | β | 2024 | β |
| Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family. | Kina BG et al. | β | 2024 | β |
| Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysis. | Vecchio D et al. | β | 2024 | β |
| WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease. | Vatsyayan A et al. | β | 2024 | β |
| A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations. | Alodaini AA et al. | β | 2023 | β |
| Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene. | Moeinafshar A et al. | β | 2023 | β |
| A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation. | Stepanova A et al. | β | 2023 | β |
| APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants. | Bianco SD et al. | β | 2023 | β |
| Application of an <i>in silico</i> approach identifies a genetic locus within <i>ITGB2,</i> and its interactions with <i>HSPG2 and FGF9,</i> to be associated with anterior cruciate ligament rupture risk. | Dlamini SB et al. | β | 2023 | β |
| Artificial intelligence-aided protein engineering: from topological data analysis to deep protein language models. | Qiu Y et al. | β | 2023 | β |
| Association of <i>BRCA2</i> Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population. | Guo S et al. | β | 2023 | β |
| Biochemical Activity of 17 Cancer-Associated Variants of DNA Polymerase Kappa Predicted by Electrostatic Properties. | Pathira Kankanamge LS et al. | β | 2023 | β |
| Characterization of Cancer/Testis Antigens as Prognostic Markers of Ovarian Cancer. | Vlasenkova R et al. | β | 2023 | β |
| Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report. | Obata Y et al. | β | 2023 | β |
| Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia. | Dattani S et al. | β | 2023 | β |
| Computational analysis of missense variant CYP4F2*3 (V433M) in association with human CYP4F2 dysfunction: a functional and structural impact. | Farajzadeh-Dehkordi M et al. | β | 2023 | β |
| Computational analysis of structural and functional evaluation of the deleterious missense variants in the human <i>CTLA4</i> gene. | Bouqdayr M et al. | β | 2023 | β |
| Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy. | Raggio V et al. | β | 2023 | β |
| Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population. | Gu Y et al. | β | 2023 | β |
| Co-Occurrence of Germline Genomic Variants and Copy Number Variations in Hereditary Breast and Colorectal Cancer Patients. | CΓ΄rtes L et al. | β | 2023 | β |
| DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS. | Lagniton PNP et al. | β | 2023 | β |
| Deciphering "the language of nature": A transformer-based language model for deleterious mutations in proteins. | Jiang TT et al. | β | 2023 | β |
| Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction. | Jorge SD et al. | β | 2023 | β |
| Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis. | MagallΓ³n-Lorenz M et al. | β | 2023 | β |
| De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. | Li W et al. | β | 2023 | β |
| Exploring genotype-phenotype correlations in glutaric aciduria type 1. | Schuurmans IME et al. | β | 2023 | β |
| Exploring the Protein Sequence Space with Global Generative Models. | Romero-Romero S et al. | β | 2023 | β |
| Genetic and clinical characteristics of ALS patients with NEK1 gene variants. | Jiang Q et al. | β | 2023 | β |
| Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection. | Packer RJ et al. | β | 2023 | β |
| Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing. | Ambayya A et al. | β | 2023 | β |
| Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans. | Hendrix S et al. | β | 2023 | β |
| Histopathology-assisted proteogenomics provides foundations for stratification of melanoma metastases | Kuras M et al. | β | 2023 | β |
| Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors. | Abdul Murad NA et al. | β | 2023 | β |
| Hypothesis-free phenotype prediction within a genetics-first framework. | Lu C et al. | β | 2023 | β |
| Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing. | Almaramhy HH et al. | β | 2023 | β |
| Identification of a Novel Non-Canonical Splice-Site Variant in <i>ABCD1</i>. | Zheng F et al. | β | 2023 | β |
| Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing. | Khan I et al. | β | 2023 | β |
| Identification of <i>GLI1</i> and <i>KIAA0825</i> Variants in Two Families with Postaxial Polydactyly. | Ahmad S et al. | β | 2023 | β |
| Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing. | Tous C et al. | β | 2023 | β |
| Identification of Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways. | Turley TN et al. | β | 2023 | β |
| <i>In silico</i> identification and characterization of small-molecule inhibitors specific to RhoG/Rac1 signaling pathway. | Dipankar P et al. | β | 2023 | β |
| In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency. | Maryami F et al. | β | 2023 | β |
| In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome. | Pham HM et al. | β | 2023 | β |
| Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification. | Tam B et al. | β | 2023 | β |
| Iroquois Family Genes in Gastric Carcinogenesis: A Comprehensive Review. | Dos Santos EC et al. | β | 2023 | β |
| Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment. | MΓΌtze U et al. | β | 2023 | β |
| Large-scale pathogenicity prediction analysis of cancer-associated kinase mutations reveals variability in sensitivity and specificity of computational methods. | Akula S et al. | β | 2023 | β |
| Learning protein fitness landscapes with deep mutational scanning data from multiple sources. | Chen L et al. | β | 2023 | β |
| Loss-of-function variants in <i>KCTD19</i> cause non-obstructive azoospermia in humans. | Liu J et al. | β | 2023 | β |
| m6A-TSHub: Unveiling the Context-specific m<sup>6</sup>A Methylation and m<sup>6</sup>A-affecting Mutations in 23 Human Tissues. | Song B et al. | β | 2023 | β |
| Matching variants for functional characterization of genetic variants. | Cevik S et al. | β | 2023 | β |
| Mining cancer genomes for change-of-metabolic-function mutations. | Tu KJ et al. | β | 2023 | β |
| Missense polymorphisms potentially involved in mandibular prognathism. | Kalmari A et al. | β | 2023 | β |
| MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction. | Ge F et al. | β | 2023 | β |
| Molecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico. | Perez-Mayoral J et al. | β | 2023 | β |
| Molecular Dynamic Simulation Analysis of a Novel Missense Variant in <i>CYB5R3</i> Gene in Patients with Methemoglobinemia. | Ullah A et al. | β | 2023 | β |
| Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency. | Pshenichnikova O et al. | β | 2023 | β |
| MUG: A mutation overview of GPCR subfamily A17 receptors. | Caniceiro AB et al. | β | 2023 | β |
| Mutation Analysis of KRAS and BRAF in Iranian Colorectal Cancer patients: A Novel Variant in Exon 15 of BRAF. | Hassani B et al. | β | 2023 | β |
| Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches. | Zhao J et al. | β | 2023 | β |
| Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies. | Zacchia M et al. | β | 2023 | β |
| N<sup>6</sup>-methyladenosine modification in 18S rRNA promotes tumorigenesis and chemoresistance via HSF4b/HSP90B1/mutant p53 axis. | Chen B et al. | β | 2023 | β |
| Pan-cancer proteogenomics connects oncogenic drivers to functional states. | Li Y et al. | β | 2023 | β |
| Pathogenicity Prediction of Single Amino Acid Variants With Machine Learning Model Based on Protein Structural Energies. | Wu TH et al. | β | 2023 | β |
| Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology. | Grasso D et al. | β | 2023 | β |
| Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data. | Yuan Y et al. | β | 2023 | β |
| Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics. | Hopkins CE et al. | β | 2023 | β |
| Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases. | Seidizadeh O et al. | β | 2023 | β |
| Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients. | Zhou W et al. | β | 2023 | β |
| Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. | Kim MJ et al. | β | 2023 | β |
| Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. | Musolf AM et al. | β | 2023 | β |
| Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting. | Diaz Perez KK et al. | β | 2023 | β |
| REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants. | Hopkins JJ et al. | β | 2023 | β |
| RMDisease V2.0: an updated database of genetic variants that affect RNA modifications with disease and trait implication. | Song B et al. | β | 2023 | β |
| Software-Tool Support for Collaborative, Virtual, Multi-Site Molecular Tumor Boards. | Schapranow MP et al. | β | 2023 | β |
| Sporadic pituitary adenoma with somatic double-hit loss of MEN1. | Hong CS et al. | β | 2023 | β |
| Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations. | Wang B et al. | β | 2023 | β |
| Targeted deep sequencing reveals the genetic heterogeneity in well-differentiated pancreatic neuroendocrine tumors with liver metastasis. | Zhou W et al. | β | 2023 | β |
| The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes. | Dallali H et al. | β | 2023 | β |
| The genetics of autism spectrum disorder in an East African familial cohort. | Tuncay IO et al. | β | 2023 | β |
| Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy. | Afsar T et al. | β | 2023 | β |
| Understanding structure-guided variant effect predictions using 3D convolutional neural networks. | Ramakrishnan G et al. | β | 2023 | β |
| Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage. | Wang X et al. | β | 2023 | β |
| Whole genome sequencing reveals population diversity and variation in HIV-1 specific host genes. | Thami PK et al. | β | 2023 | β |
| A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics. | Saxena S et al. | β | 2022 | β |
| A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation. | Wang Y et al. | β | 2022 | β |
| A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma. | Chiang J et al. | β | 2022 | β |
| Adrenal Medullary Hyperplasia: An Under the Radar Cause of Endocrine Hypertension. | Rivas Mejia AM et al. | β | 2022 | β |
| A general framework for identifying oligogenic combinations of rare variants in complex disorders. | Pounraja VK et al. | β | 2022 | β |
| Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies. | Iancu IF et al. | β | 2022 | β |
| A Low-Activity Polymorphic Variant of Human NEIL2 DNA Glycosylase. | Kakhkharova ZI et al. | β | 2022 | β |
| AmazonForest: In Silico Metaprediction of Pathogenic Variants. | Palheta HGA et al. | β | 2022 | β |
| Analysis of coding variants in the human FTO gene from the gnomAD database. | Souza Junior MLF et al. | β | 2022 | β |
| Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. | Quinodoz M et al. | β | 2022 | β |
| Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor. | Machnicki MM et al. | β | 2022 | β |
| An expanded phenotype centric benchmark of variant prioritisation tools. | Anderson D et al. | β | 2022 | β |
| Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. | Baxi EG et al. | β | 2022 | β |
| A phase 2 evaluation of pembrolizumab for recurrent Lynch-like versus sporadic endometrial cancers with microsatellite instability. | Bellone S et al. | β | 2022 | β |
| ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia. | SchΓΆnfeld L et al. | β | 2022 | β |
| Biological network topology features predict gene dependencies in cancer cell-lines. | Benstead-Hume G et al. | β | 2022 | β |
| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. | Pejaver V et al. | β | 2022 | β |
| CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer. | Li Q et al. | β | 2022 | β |
| Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of <i>LPL</i> Gene Causing Lipoprotein Lipase Deficiency. | Li Y et al. | β | 2022 | β |
| CerealsDB: A Whistle-Stop Tour of an Open Access SNP Resource. | Winfield M et al. | β | 2022 | β |
| Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants. | Barbosa P et al. | β | 2022 | β |
| Comparative analysis of web-based programs for single amino acid substitutions in proteins. | Choudhury A et al. | β | 2022 | β |
| Comparative assessment of genes driving cancer and somatic evolution in non-cancer tissues: an update of the Network of Cancer Genes (NCG) resource. | Dressler L et al. | β | 2022 | β |
| Compound Heterozygous Factor VII Deficiency c.1025G>A p.(Arg342Gln) With Novel Missense Variant c.194C>G p.(Ala65Gly). | Gallardo CA et al. | β | 2022 | β |
| Comprehensive Analysis of Co-Mutations Identifies Cooperating Mechanisms of Tumorigenesis. | Jiang L et al. | β | 2022 | β |
| Computational Approaches for Investigating Disease-causing Mutations in Membrane Proteins: Database Development, Analysis and Prediction. | Kulandaisamy A et al. | β | 2022 | β |
| Computational approaches for predicting variant impact: An overview from resources, principles to applications. | Liu Y et al. | β | 2022 | β |
| Computational methods to assist in the discovery of pharmacological chaperones for rare diseases. | Scafuri B et al. | β | 2022 | β |
| Computational Resources for the Interpretation of Variations in Cancer. | Privitera GF et al. | β | 2022 | β |
| Definitive Chemoradiation and Durvalumab Consolidation for Locally Advanced, Unresectable KRAS-mutated Non-Small Cell Lung Cancer. | Guo MZ et al. | β | 2022 | β |
| Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization. | Huang YS et al. | β | 2022 | β |
| Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study. | Mergnac JP et al. | β | 2022 | β |
| Diverse monogenic subforms of human spermatogenic failure. | Nagirnaja L et al. | β | 2022 | β |
| DriverMP enables improved identification of cancer driver genes. | Liu Y et al. | β | 2022 | β |
| DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. | Bu F et al. | β | 2022 | β |
| Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function. | Dash R et al. | β | 2022 | β |
| Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China. | Wang DW et al. | β | 2022 | β |
| Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse. | Richardson S et al. | β | 2022 | β |
| Evaluating the impact of in silico predictors on clinical variant classification. | Wilcox EH et al. | β | 2022 | β |
| Evaluation of in silico predictors on short nucleotide variants in <i>HBA1</i>, <i>HBA2</i>, and <i>HBB</i> associated with haemoglobinopathies. | Tamana S et al. | β | 2022 | β |
| Exploring Plausible Therapeutic Targets for Alzheimer's Disease using Multi-omics Approach, Machine Learning and Docking. | Parvathy Dharshini SA et al. | β | 2022 | β |
| Fibromodulin Gene Variants (<i>FMOD</i>) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia. | Silva T et al. | β | 2022 | β |
| Filamin A Is a Potential Driver of Breast Cancer Metastasis <i>via</i> Regulation of MMP-1. | Zhou J et al. | β | 2022 | β |
| Functional and clinical analysis of five <i>EDA</i> variants associated with ectodermal dysplasia but with a hard-to-predict significance. | GΓΆkdere S et al. | β | 2022 | β |
| Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | Karakaya C et al. | β | 2022 | β |
| Genetic findings in patients with primary fibrotic atrial cardiomyopathy. | Zhu Y et al. | β | 2022 | β |
| Genetic landscape of human mitochondrial genome using whole-genome sequencing. | Wang Y et al. | β | 2022 | β |
| Genome interpretation using in silico predictors of variant impact. | Katsonis P et al. | β | 2022 | β |
| Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. | de Bruijn I et al. | β | 2022 | β |
| Genome sequencing data analysis for rare disease gene discovery. | Umlai UI et al. | β | 2022 | β |
| Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes. | Skotte L et al. | β | 2022 | β |
| Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey. | Akinci A et al. | β | 2022 | β |
| Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development. | Marko HL et al. | β | 2022 | β |
| Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry. | Eygelaar D et al. | β | 2022 | β |
| HPMPdb: A machine learning-ready database of protein molecular phenotypes associated to human missense variants. | Raimondi D et al. | β | 2022 | β |
| Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability. | Dashti S et al. | β | 2022 | β |
| Identification of potential targets of the curcumin analog CCA-1.1 for glioblastoma treatment : integrated computational analysis and in vitro study. | Hermawan A et al. | β | 2022 | β |
| Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations. | Aslan T et al. | β | 2022 | β |
| Immunopeptidomic analyses of colorectal cancers with and without microsatellite instability. | Cleyle J et al. | β | 2022 | β |
| Insights into the structure and dynamics of SARS-CoV-2 spike glycoprotein double mutant L452R-E484Q. | Ahamad S et al. | β | 2022 | β |
| Insights on variant analysis <i>in silico</i> tools for pathogenicity prediction. | Garcia FAO et al. | β | 2022 | β |
| In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis. | Mondal A et al. | β | 2022 | β |
| In silico mutational analysis to identify the role and pathogenicity of BCL-w missense variants. | Kumari P et al. | β | 2022 | β |
| Integrative Meta-Analysis of Huntington's Disease Transcriptome Landscape. | Sneha NP et al. | β | 2022 | β |
| Interpreting protein variant effects with computational predictors and deep mutational scanning. | Livesey BJ et al. | β | 2022 | β |
| Investigation of <i>CACNA1I</i> Cav3.3 Dysfunction in Hemiplegic Migraine. | Maksemous N et al. | β | 2022 | β |
| In vivo anti-tumor effect of PARP inhibition in IDH1/2 mutant MDS/AML resistant to targeted inhibitors of mutant IDH1/2. | Gbyli R et al. | β | 2022 | β |
| <i>OGDHL</i> Variant rs2293239: A Potential Genetic Driver of Chinese Familial Depressive Disorder. | Pan Z et al. | β | 2022 | β |
| Learning protein fitness models from evolutionary and assay-labeled data. | Hsu C et al. | β | 2022 | β |
| LYRUS: a machine learning model for predicting the pathogenicity of missense variants. | Lai J et al. | β | 2022 | β |
| Machine learning methods for prediction of cancer driver genes: a survey paper. | Andrades R et al. | β | 2022 | β |
| Machine-learning of complex evolutionary signals improves classification of SNVs. | Labes S et al. | β | 2022 | β |
| Medulloblastoma group 3 and 4 tumors comprise a clinically and biologically significant expression continuum reflecting human cerebellar development. | Williamson D et al. | β | 2022 | β |
| MEFV gene allele frequency and genotype distribution in 3230 patients' analyses by next generation sequencing methods. | KΔ±rnaz B et al. | β | 2022 | β |
| Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases. | Pijuan J et al. | β | 2022 | β |
| Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. | Santos M et al. | β | 2022 | β |
| Mouse-INtraDuctal (MIND): an in vivo model for studying the underlying mechanisms of DCIS malignancy. | Hong Y et al. | β | 2022 | β |
| Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysis. | Romano C et al. | β | 2022 | β |
| NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype. | Almeida MR et al. | β | 2022 | β |
| Novel <i>RAB3GAP1</i> Mutation in the First Tunisian Family With Warburg Micro Syndrome. | Kerkeni N et al. | β | 2022 | β |
| Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma. | Luo Y et al. | β | 2022 | β |
| PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening-Related Genetic Variants in Structural Context. | Galano-Frutos JJ et al. | β | 2022 | β |
| Potential Involvement of <i>NSD1</i>, <i>KRT24</i> and <i>ACACA</i> in the Genetic Predisposition to Colorectal Cancer. | Quintana I et al. | β | 2022 | β |
| Presence of rare potential pathogenic variants in subjects under 65Β years old with very severe or fatal COVID-19. | LΓ³pez-RodrΓguez R et al. | β | 2022 | β |
| Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database. | Rajcsanyi LS et al. | β | 2022 | β |
| Protein structural bioinformatics: An overview. | Paiva VA et al. | β | 2022 | β |
| PTBP2 - a gene with relevance for both Anorexia nervosa and body weight regulation. | Zheng Y et al. | β | 2022 | β |
| Rare variant association study of veteran twin whole-genomes links severe depression with a nonsynonymous change in the neuronal gene <i>BHLHE22</i>. | Hupalo D et al. | β | 2022 | β |
| Recent Advances in Machine Learning Variant Effect Prediction Tools for Protein Engineering. | Horne J et al. | β | 2022 | β |
| Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis | Hosseini Nami A et al. | β | 2022 | β |
| Roles of neuroligins in central nervous system development: focus on glial neuroligins and neuron neuroligins. | Liu X et al. | β | 2022 | β |
| Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations. | Gezgin Y et al. | β | 2022 | β |
| Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel. | Burdon KP et al. | β | 2022 | β |
| Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1. | Choi HJ et al. | β | 2022 | β |
| SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants. | Othman H et al. | β | 2022 | β |
| The Architecture of a Precision Oncology Platform. | LaganΓ A | β | 2022 | β |
| The Utility of Genomic Testing for Hyperphenylalaninemia. | Tendi EA et al. | β | 2022 | β |
| Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach. | Ranjan P et al. | β | 2022 | β |
| Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions. | Wilhelm K et al. | β | 2022 | β |
| Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools. | Suszynska M et al. | β | 2022 | β |
| Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. | Prado MJ et al. | β | 2022 | β |
| What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics. | Musolf AM et al. | β | 2022 | β |
| Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia. | Mohsen-Pour N et al. | β | 2022 | β |
| Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy. | Kuan SW et al. | β | 2022 | β |
| 3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. | Won DG et al. | β | 2021 | β |
| A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee. | Rosenbaum JN et al. | β | 2021 | β |
| A domain damage index to prioritizing the pathogenicity of missense variants. | Chen HC et al. | β | 2021 | β |
| A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774Β Tβ>βA. | Sui Y et al. | β | 2021 | β |
| A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome. | Al-Numair N et al. | β | 2021 | β |
| Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome. | Yan MT et al. | β | 2021 | β |
| An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients. | Barizzone N et al. | β | 2021 | β |
| A Novel <i>GEMIN4</i> Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. | Aldhalaan H et al. | β | 2021 | β |
| A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants. | Pandi MT et al. | β | 2021 | β |
| A Novel Mutation of the KLK6 Gene in a Family With Knee Osteoarthritis. | Ge Y et al. | β | 2021 | β |
| A role for the MEGF6 gene in predisposition to osteoporosis. | Teerlink CC et al. | β | 2021 | β |
| Assessing performance of pathogenicity predictors using clinically relevant variant datasets. | Gunning AC et al. | β | 2021 | β |
| Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance. | Lee M et al. | β | 2021 | β |
| Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. | Levy J et al. | β | 2021 | β |
| Case Report: A Novel <i>PAX3</i> Mutation Associated With Waardenburg Syndrome Type 1. | Hu Q et al. | β | 2021 | β |
| Case Report: Compound Heterozygous Variants in <i>MOCS3</i> Identified in a Chinese Infant With Molybdenum Cofactor Deficiency. | Tian Q et al. | β | 2021 | β |
| Case Report: Identification of a Novel Homozygous Mutation in <i>GPD1</i> Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia. | Lin H et al. | β | 2021 | β |
| Case Report: Reinterpretation and Reclassification of <i>ARSB</i>:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the <i>CDH23</i> Gene. | Al Dhahouri N et al. | β | 2021 | β |
| CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy. | Obara-MoszyΕska M et al. | β | 2021 | β |
| Characterization of <i>SLC34A2</i> as a Potential Prognostic Marker of Oncological Diseases. | Vlasenkova R et al. | β | 2021 | β |
| Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients. | Ali A et al. | β | 2021 | β |
| Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation. | Vidal AF et al. | β | 2021 | β |
| Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma. | Qin N et al. | β | 2021 | β |
| Comprehensive Identification of Deleterious <i>TP53</i> Missense VUS Variants Based on Their Impact on TP53 Structural Stability. | Tam B et al. | β | 2021 | β |
| Comprehensive in-silico analysis of damage associated SNPs in hOCT1 affecting Imatinib response in chronic myeloid leukemia. | Soltani I et al. | β | 2021 | β |
| Computational algorithmic and molecular dynamics study of functional and structural impacts of non-synonymous single nucleotide polymorphisms in human DHFR gene. | Alam MS et al. | β | 2021 | β |
| Computational and structural based approach to identify malignant nonsynonymous single nucleotide polymorphisms associated with CDK4 gene. | Islam R et al. | β | 2021 | β |
| Computational Tools for Causal Inference in Genetics. | Richardson TG et al. | β | 2021 | β |
| ConsRM: collection and large-scale prediction of the evolutionarily conserved RNA methylation sites, with implications for the functional epitranscriptome. | Song B et al. | β | 2021 | β |
| Developmental and temporal characteristics of clonal sperm mosaicism. | Yang X et al. | β | 2021 | β |
| driveR: a novel method for prioritizing cancer driver genes using somatic genomics data. | Γlgen E et al. | β | 2021 | β |
| Duo: A Signature Based Method to Batch-Analyze Functional Similarities of Proteins. | Fei X et al. | β | 2021 | β |
| Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants. | McConnell H et al. | β | 2021 | β |
| Evolutionary and functional lessons from human-specific amino acid substitution matrices. | Shauli T et al. | β | 2021 | β |
| Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease. | Jamialahmadi O et al. | β | 2021 | β |
| Familial Psychosis Associated With a Missense Mutation at <i>MACF1</i> Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the <i>CNTN6</i> and <i>CDH13</i> Genes. | Pol-Fuster J et al. | β | 2021 | β |
| Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches. | Laprovitera N et al. | β | 2021 | β |
| Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping. | Ahmed Z et al. | β | 2021 | β |
| Germ-line mutations in <i>WDR77</i> predispose to familial papillary thyroid cancer. | Zhao Y et al. | β | 2021 | β |
| GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. | Li B et al. | β | 2021 | β |
| Hearing Impairment with Monoallelic GJB2 Variants: A GJB2 Cause or Non-GJB2 Cause? | Lin YH et al. | β | 2021 | β |
| Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty. | Estrella EA et al. | β | 2021 | β |
| Hypermutated phenotype in gliosarcoma of the spinal cord. | Hong CS et al. | β | 2021 | β |
| <i>APP</i>, <i>PSEN1</i>, and <i>PSEN2</i> Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. | Xiao X et al. | β | 2021 | β |
| Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes. | Kim SJ et al. | β | 2021 | β |
| Identification of driver genes based on gene mutational effects and network centrality. | Tang YY et al. | β | 2021 | β |
| Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations. | Zhu Q et al. | β | 2021 | β |
| Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma. | Jiang H et al. | β | 2021 | β |
| <i>In Silico</i> Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review. | Yazar M et al. | β | 2021 | β |
| Impact of Deleterious Mutations on Structure, Function and Stability of Serum/Glucocorticoid Regulated Kinase 1: A Gene to Diseases Correlation. | AlAjmi MF et al. | β | 2021 | β |
| Incorporating structural features to improve the prediction and understanding of pathogenic amino acid substitutions. | Xiong Y et al. | β | 2021 | β |
| In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy. | Ritter DM et al. | β | 2021 | β |
| In silico saturation mutagenesis of cancer genes. | MuiΓ±os F et al. | β | 2021 | β |
| Kabuki Syndrome: Identification of Two Novel Variants in <i>KMT2D</i> and <i>KDM6A</i>. | Khodaeian M et al. | β | 2021 | β |
| Leveraging supervised learning for functionallyΒ informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. | Wang QS et al. | β | 2021 | β |
| Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants. | Mahlich Y et al. | β | 2021 | β |
| MobiDetails: online DNA variants interpretation. | Baux D et al. | β | 2021 | β |
| Molecular-based precision oncology clinical decision making augmented by artificial intelligence. | Zeng J et al. | β | 2021 | β |
| Molecular dynamics approach to identification of new OGG1 cancer-associated somatic variants with impaired activity. | Popov AV et al. | β | 2021 | β |
| Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when. | Galano-Frutos JJ et al. | β | 2021 | β |
| Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration. | Todd JN et al. | β | 2021 | β |
| MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins. | Ge F et al. | β | 2021 | β |
| New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. | Diroma MA et al. | β | 2021 | β |
| Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease. | Kanwal S et al. | β | 2021 | β |
| Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients. | Ghaffari T et al. | β | 2021 | β |
| Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. | Mendez R et al. | β | 2021 | β |
| OncoVar: an integrated database and analysis platform for oncogenic driver variants in cancers. | Wang T et al. | β | 2021 | β |
| Pan-cancer analysis of transcripts encoding novel open-reading frames (nORFs) and their potential biological functions. | Erady C et al. | β | 2021 | β |
| Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development. | Montenegro LR et al. | β | 2021 | β |
| Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations. | Zhao T et al. | β | 2021 | β |
| PON-Sol2: Prediction of Effects of Variants on Protein Solubility. | Yang Y et al. | β | 2021 | β |
| Prediction of driver variants in the cancer genome via machine learning methodologies. | Rogers MF et al. | β | 2021 | β |
| Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib. | Machnicki MM et al. | β | 2021 | β |
| Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter. | RodrΓguez Cruz PM et al. | β | 2021 | β |
| Prevalence and Clinical Characteristics of Hearing Loss Caused by <i>MYH14</i> Variants. | Hiramatsu K et al. | β | 2021 | β |
| Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease. | Aslam M et al. | β | 2021 | β |
| Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry. | Liu Y et al. | β | 2021 | β |
| RMDisease: a database of genetic variants that affect RNA modifications, with implications for epitranscriptome pathogenesis. | Chen K et al. | β | 2021 | β |
| RNA editing affects cis-regulatory elements and predicts adverse cancer survival. | Wu YM et al. | β | 2021 | β |
| Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma. | Qiao Y et al. | β | 2021 | β |
| Structural and functional analysis of disease-associated mutations in GOT1 gene: An in silico study. | Saxena S et al. | β | 2021 | β |
| Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease. | Blake S et al. | β | 2021 | β |
| Synonymous and non-synonymous polymorphisms in toll-like receptor 2 (TLR2) gene among complicated measles cases at a tertiary care hospital, Peshawar, Pakistan. | Ilyas M et al. | β | 2021 | β |
| The Novel Phosphatase Domain Mutations Q171R and Y65S Switch PTEN from Tumor Suppressor to Oncogene. | Garrido JAMG et al. | β | 2021 | β |
| The protective effects of the methylenetetrahydrofolate reductase rs1801131 variant among Saudi smokers. | Almutairi MH et al. | β | 2021 | β |
| The structural, functional, and dynamic effect of Tau tubulin kinase1 upon a mutation: A neuro-degenerative hotspot. | Ahamad S et al. | β | 2021 | β |
| Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants. | Γzkan S et al. | β | 2021 | β |
| Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants. | Shulman C et al. | β | 2021 | β |
| VPMBench: a test bench for variant prioritization methods. | Ruscheinski A et al. | β | 2021 | β |
| Which Is the Best <i>In Silico</i> Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. | Borges P et al. | β | 2021 | β |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. | Ma DJ et al. | β | 2021 | β |
| Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB. | Wu Y et al. | β | 2021 | β |
| Whole-Exome Sequencing of Patients With Posterior Segment Uveitis. | Li AS et al. | β | 2021 | β |
| Whole-Genome Sequencing Improves the Diagnosis of <i>DFNB1</i> Monoallelic Patients. | Le Nabec A et al. | β | 2021 | β |
| X-CNV: genome-wide prediction of the pathogenicity of copy number variations. | Zhang L et al. | β | 2021 | β |
| A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. | Zhang B et al. | β | 2020 | β |
| Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). | Fatehi F et al. | β | 2020 | β |
| AI-Driver: an ensemble method for identifying driver mutations in personal cancer genomes. | Wang H et al. | β | 2020 | β |
| Analysis of the Spectrum of <i>ACE2</i> Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome. | Shikov AE et al. | β | 2020 | β |
| An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. | Cipriani V et al. | β | 2020 | β |
| A novel compound heterozygous mutation in <i>DGKE</i> in a Chinese patient causes atypical hemolytic uremic syndrome. | Li J et al. | β | 2020 | β |
| A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report. | Gao G et al. | β | 2020 | β |
| A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration. | Kapasi A et al. | β | 2020 | β |
| A Novel System for Functional Determination of Variants of Uncertain Significance using Deep Convolutional Neural Networks. | Zimmerman L et al. | β | 2020 | β |
| A pan-cancer analysis reveals nonstop extension mutations causing SMAD4 tumour suppressor degradation. | Dhamija S et al. | β | 2020 | β |
| Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. | Encarnação M et al. | β | 2020 | β |
| Benchmarking analysis of deleterious SNP prediction tools on CYP2D6 enzyme. | Ferreira KCDV et al. | β | 2020 | β |
| Cancer Predisposition Genes in Cancer-Free Families. | Zheng G et al. | β | 2020 | β |
| CerealsDB-new tools for the analysis of the wheat genome: update 2020. | Wilkinson PA et al. | β | 2020 | β |
| Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. | Lago-Docampo M et al. | β | 2020 | β |
| Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the <i>HMGA2</i> Gene. | MejΓa Granados DM et al. | β | 2020 | β |
| Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants. | Abolhassani H et al. | β | 2020 | β |
| Complement Factor I Mutation May Contribute to Development of Thrombotic Microangiopathy in Lupus Nephritis. | Tseng MH et al. | β | 2020 | β |
| Comprehensive assessment of computational algorithms in predicting cancer driver mutations. | Chen H et al. | β | 2020 | β |
| Comprehensive Characterization of Stage IIIA Non-Small Cell Lung Carcinoma. | Singh N et al. | β | 2020 | β |
| Computational analyses prioritize and reveal the deleterious nsSNPs in human angiotensinogen gene. | Goswami AM | β | 2020 | β |
| Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes. | Samson JM et al. | β | 2020 | β |
| CScape-somatic: distinguishing driver and passenger point mutations in the cancer genome. | Rogers MF et al. | β | 2020 | β |
| dbCPM: a manually curated database for exploring the cancer passenger mutations. | Yue Z et al. | β | 2020 | β |
| dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. | Liu X et al. | β | 2020 | β |
| DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation. | Elzaiat M et al. | β | 2020 | β |
| Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation. | Lauschke VM et al. | β | 2020 | β |
| Estimation of varicocele associated human ARG2 and NOS1 proteins and computational analysis on the effect of its nsSNPs. | Karthikeyan V et al. | β | 2020 | β |
| Expansion of the genetic landscape of ERLIN2-related disorders. | Srivastava S et al. | β | 2020 | β |
| Family-specific analysis of variant pathogenicity prediction tools. | Zaucha J et al. | β | 2020 | β |
| Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. | Zhao G et al. | β | 2020 | β |
| Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families. | Doll J et al. | β | 2020 | β |
| Genomically Aided Diagnosis of Severe Developmental Disorders. | FitzPatrick DR et al. | β | 2020 | β |
| Identification of altered biological processes in heterogeneous RNA-sequencing data by discretization of expression profiles. | Lauria A et al. | β | 2020 | β |
| Identification of a Pathogenic <i>TGFBR2</i> Variant in a Patient With Loeys-Dietz Syndrome. | Luo X et al. | β | 2020 | β |
| Identification of osteosarcoma driver genes using a network method. | Si Z et al. | β | 2020 | β |
| Identification of pathogenic variant enriched regions across genes and gene families. | PΓ©rez-Palma E et al. | β | 2020 | β |
| Identification of Somatic Mutations in Thirty-year-old Serum Cell-free DNA From Patients With Breast Cancer: A Feasibility Study. | Ritter M et al. | β | 2020 | β |
| Identification of the First PAX4-MODY Family Reported in Brazil. | Abreu GM et al. | β | 2020 | β |
| IDRMutPred: predicting disease-associated germline nonsynonymous single nucleotide variants (nsSNVs) in intrinsically disordered regions. | Zhou JB et al. | β | 2020 | β |
| Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. | Pejaver V et al. | β | 2020 | β |
| InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. | Takeda JI et al. | β | 2020 | β |
| Integrative genomic analysis focused on cell cycle genes for MYC-driven aggressive mature B-cell lymphoma. | Yamashita T et al. | β | 2020 | β |
| Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia. | Ibrahim AZ et al. | β | 2020 | β |
| <i>GJB4</i> and <i>GJC3</i> variants in non-syndromic hearing impairment in Ghana. | Adadey SM et al. | β | 2020 | β |
| m7GHub: deciphering the location, regulation and pathogenesis of internal mRNA N7-methylguanosine (m7G) sites in human. | Song B et al. | β | 2020 | β |
| Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities. | Ganguly K et al. | β | 2020 | β |
| Mechanistic insights into the deleterious roles of Nasu-Hakola disease associated TREM2 variants. | Dash R et al. | β | 2020 | β |
| Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. | Erzurumluoglu AM et al. | β | 2020 | β |
| Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome. | Shaik NA et al. | β | 2020 | β |
| MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. | Yang X et al. | β | 2020 | β |
| m<sup>6</sup>A RNA modification modulates PI3K/Akt/mTOR signal pathway in Gastrointestinal Cancer. | Zhao Q et al. | β | 2020 | β |
| Multi-omic studies on missense PLG variants in families with otitis media. | Bootpetch TC et al. | β | 2020 | β |
| Mutation-Associated Phenotypic Heterogeneity in Novel and Canonical PIK3CA Helical and Kinase Domain Mutants. | Ghodsinia AA et al. | β | 2020 | β |
| Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. | Wiedemann A et al. | β | 2020 | β |
| Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers. | Papa R et al. | β | 2020 | β |
| Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy. | Manivannan SN et al. | β | 2020 | β |
| Predicting the pathogenicity of protein coding mutations using Natural Language Processing. | Rehmat N et al. | β | 2020 | β |
| Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. | Pandurangan AP et al. | β | 2020 | β |
| Pred-MutHTP: Prediction of disease-causing and neutral mutations in human transmembrane proteins. | Kulandaisamy A et al. | β | 2020 | β |
| Profile of genetic variations in severely calcified carotid plaques by whole-exome sequencing. | Katano H et al. | β | 2020 | β |
| PTMsnp: A Web Server for the Identification of Driver Mutations That Affect Protein Post-translational Modification. | Peng D et al. | β | 2020 | β |
| Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis. | Obeidova L et al. | β | 2020 | β |
| SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). | Budny B et al. | β | 2020 | β |
| SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. | McNeill A et al. | β | 2020 | β |
| Structural and conformational changes induced by missense variants in the zinc finger domains of GATA3 involved in breast cancer. | Kumar R et al. | β | 2020 | β |
| Structural insights and evaluation of the potential impact of missense variants on the interactions of SLIT2 with ROBO1/4 in cancer progression. | Sengupta D et al. | β | 2020 | β |
| The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders. | Sasorith S et al. | β | 2020 | β |
| The First Report of Biallelic Missense Mutations in the <i>SFRP4</i> Gene Causing Pyle Disease in Two Siblings. | SowiΕska-Seidler A et al. | β | 2020 | β |
| The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study. | Pei YF et al. | β | 2020 | β |
| The Melanocortin 4 Receptor p.Ile269Asn Mutation Is Associated with Childhood and Adult Obesity in Mexicans. | VΓ‘zquez-Moreno M et al. | β | 2020 | β |
| The single nucleotide Ξ² -arrestin2 variant, A248T, resembles dynamical properties of activated arrestin. | Εensoy Γ | β | 2020 | β |
| TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools. | Srinivasan E et al. | β | 2020 | β |
| Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. | Li S et al. | β | 2020 | β |
| Untangling a complex web: Computational analyses of tumor molecular profiles to decode driver mechanisms. | Khalighi S et al. | β | 2020 | β |
| Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar. | Sallah SR et al. | β | 2020 | β |
| Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations. | Livesey BJ et al. | β | 2020 | β |
| Variant discovery using next-generation sequencing and its future role in pharmacogenetics. | Russell LE et al. | β | 2020 | β |
| Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer. | Masoodi T et al. | β | 2020 | β |
| Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation in <i>PPIB</i> Gene Clustered in Two Taiwanese Families Exhibiting Fetal Skeletal Dysplasia during Prenatal Ultrasound. | Chang TY et al. | β | 2020 | β |
| Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. | Wong M et al. | β | 2020 | β |
| A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. | Barozzi C et al. | β | 2019 | β |
| Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. | Suwinski P et al. | β | 2019 | β |
| An optimized prediction framework to assess the functional impact of pharmacogenetic variants. | Zhou Y et al. | β | 2019 | β |
| A novel CDKN2A variant (p16<sup>L117P</sup> ) in a patient with familial and multiple primary melanomas. | Li C et al. | β | 2019 | β |
| Application of Computational Biology and Artificial Intelligence Technologies in Cancer Precision Drug Discovery. | Nagarajan N et al. | β | 2019 | β |
| A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases. | Hassan MS et al. | β | 2019 | β |
| A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. | Nixon KCJ et al. | β | 2019 | β |
| Benchmarking subcellular localization and variant tolerance predictors on membrane proteins. | Orioli T et al. | β | 2019 | β |
| Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA. | Tanwar H et al. | β | 2019 | β |
| Characterization of intellectual disability and autism comorbidity through gene panel sequencing. | Aspromonte MC et al. | β | 2019 | β |
| Comparison of Predictive <i>In Silico</i> Tools on Missense Variants in <i>GJB2</i>, <i>GJB6</i>, and <i>GJB3</i> Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). | Pshennikova VG et al. | β | 2019 | β |
| Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data. | Wang Q et al. | β | 2019 | β |
| Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. | O'Gorman L et al. | β | 2019 | β |
| Computational Analysis of nsSNPs of <i>ADA</i> Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation. | Essadssi S et al. | β | 2019 | β |
| Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function. | Gandhi Muruganandhan S et al. | β | 2019 | β |
| Computational Molecular Phenotypic Analysis of PTPN22 (W620R), IL6R (D358A), and TYK2 (P1104A) Gene Mutations of Rheumatoid Arthritis. | Shaik NA et al. | β | 2019 | β |
| Computational resources associating diseases with genotypes, phenotypes and exposures. | Zhang W et al. | β | 2019 | β |
| Computing the Pathogenicity of Alzheimer's Disease Presenilin 1 Mutations. | Tang N et al. | β | 2019 | β |
| Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications. | Meyre D et al. | β | 2019 | β |
| Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. | Whitman MC et al. | β | 2019 | β |
| Detecting TP53 mutations in diagnostic and archival liquid-based Pap samples from ovarian cancer patients using an ultra-sensitive ddPCR method. | Arildsen NS et al. | β | 2019 | β |
| DIAPH2 alterations increase cellular motility and may contribute to the metastatic potential of laryngeal squamous cell carcinoma. | Kostrzewska-Poczekaj M et al. | β | 2019 | β |
| Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease. | Huang YF et al. | β | 2019 | β |
| Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study. | Cebolla JJ et al. | β | 2019 | β |
| Evolutionary history of human colitis-associated colorectal cancer. | Baker AM et al. | β | 2019 | β |
| Exploring the spatiotemporal genetic heterogeneity in metastatic lung adenocarcinoma using a nuclei flow-sorting approach. | Lorber T et al. | β | 2019 | β |
| FactorialHMM: fast and exact inference in factorial hidden Markov models. | Schweiger R et al. | β | 2019 | β |
| Finding driver mutations in cancer: Elucidating the role of background mutational processes. | Brown AL et al. | β | 2019 | β |
| Frequently used bioinformatics tools overestimate the damaging effect of allelic variants. | Andersen LL et al. | β | 2019 | β |
| From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB). | Eichstadt S et al. | β | 2019 | β |
| Functional characterization of 3D protein structures informed by human genetic diversity. | Hicks M et al. | β | 2019 | β |
| GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data. | Mossotto E et al. | β | 2019 | β |
| Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant. | Jacob N et al. | β | 2019 | β |
| Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. | Evans P et al. | β | 2019 | β |
| Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. | Dutil J et al. | β | 2019 | β |
| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. | Richard EM et al. | β | 2019 | β |
| How good are pathogenicity predictors in detecting benign variants? | Niroula A et al. | β | 2019 | β |
| Identification of a Novel <i>NOG</i> Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions. | Xiong J et al. | β | 2019 | β |
| Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families | Amirian A et al. | β | 2019 | β |
| Improved measures for evolutionary conservation that exploit taxonomy distances. | Malhis N et al. | β | 2019 | β |
| Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. | Miller JE et al. | β | 2019 | β |
| Insights into pathological mutations in insulin-like growth factor I through in silico screening and molecular dynamics simulation. | Liu G et al. | β | 2019 | β |
| In silico analysis for determining the deleterious nonsynonymous single nucleotide polymorphisms of <i>BRCA</i> genes. | Yadegari F et al. | β | 2019 | β |
| Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. | Shigaki D et al. | β | 2019 | β |
| Integration of Random Forest Classifiers and Deep Convolutional Neural Networks for Classification and Biomolecular Modeling of Cancer Driver Mutations. | Agajanian S et al. | β | 2019 | β |
| Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia. | Branford S et al. | β | 2019 | β |
| Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. | Zaklyazminskaya E et al. | β | 2019 | β |
| Massively parallel sequencing analysis of benign melanocytic naevi. | Lozada JR et al. | β | 2019 | β |
| Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with <i>Ξ±</i>-Carbonic Anhydrase II Deficiency. | Sanyanga TA et al. | β | 2019 | β |
| Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. | Lipinski S et al. | β | 2019 | β |
| Mitochondrial DNA Mutations are Associated with Ulcerative Colitis Preneoplasia but Tend to be Negatively Selected in Cancer. | Baker KT et al. | β | 2019 | β |
| Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing. | Butt E et al. | β | 2019 | β |
| New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. | Shrine N et al. | β | 2019 | β |
| New insights into the pathogenicity of non-synonymous variants through multi-level analysis. | Sun H et al. | β | 2019 | β |
| Next Generation Sequencing Analysis in Early Onset Dementia Patients. | Bonvicini C et al. | β | 2019 | β |
| Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients. | Stamou MI et al. | β | 2019 | β |
| Non-Redundant and Overlapping Oncogenic Readouts of Non-Canonical and Novel Colorectal Cancer KRAS and NRAS Mutants. | Alcantara KMM et al. | β | 2019 | β |
| Novel mutations in the <i>RS1</i> gene in Japanese patients with X-linked congenital retinoschisis. | Kondo H et al. | β | 2019 | β |
| Ontology-based prediction of cancer driver genes. | Althubaiti S et al. | β | 2019 | β |
| Pan-Genomic and Polymorphic Driven Prediction of Antibiotic Resistance in <i>Elizabethkingia</i>. | Naidenov B et al. | β | 2019 | β |
| Pathogenicity Reclasssification of <i>RPE65</i> Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. | Motta FL et al. | β | 2019 | β |
| Prediction of disease-associated mutations in the transmembrane regions of proteins with known 3D structure. | Popov P et al. | β | 2019 | β |
| RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. | Yizhak K et al. | β | 2019 | β |
| Somatic mutations and promotor methylation of the ryanodine receptor 2 is a common event in the pathogenesis of head and neck cancer. | Schmitt K et al. | β | 2019 | β |
| Structure-based Method for Predicting Deleterious Missense SNPs. | Wang B et al. | β | 2019 | β |
| Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete. | Castellana S et al. | β | 2019 | β |
| Targeted deep sequencing of the PEAR1 locus for platelet aggregation in European and African American families. | Keramati AR et al. | β | 2019 | β |
| The Frog <i>Xenopus</i> as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in <i>PIBF1</i>. | Ott T et al. | β | 2019 | β |
| The genetic landscape of the human solute carrier (SLC) transporter superfamily. | Schaller L et al. | β | 2019 | β |
| The impact of SOCS1 mutations in diffuse large B-cell lymphoma. | Mellert K et al. | β | 2019 | β |
| Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. | Morris AP et al. | β | 2019 | β |
| UniProt genomic mapping for deciphering functional effects of missense variants. | McGarvey PB et al. | β | 2019 | β |
| Unique Mutational Spectrum of the <i>GJB2</i> Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys). | Posukh OL et al. | β | 2019 | β |
| Unravelling the covalent binding of zampanolide and taccalonolide AJ to a minimalist representation of a human microtubule. | SΓ‘nchez-Murcia PA et al. | β | 2019 | β |
| Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. | He MM et al. | β | 2019 | β |
| Variations in maternal adenylate cyclase genes are associated with congenital Zika syndrome in a cohort from Northeast, Brazil. | Rossi ΓD et al. | β | 2019 | β |
| VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. | Ip E et al. | β | 2019 | β |
| Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan. | Tseng MH et al. | β | 2019 | β |
| Whole exome sequencing identifies a rare variant in <i>DAAM2</i> as a potential candidate in idiopathic pulmonary ossification. | Sun SW et al. | β | 2019 | β |
| Whole-exome sequencing indicates <i>FLG</i>2 variant associated with leg ulcers in Brazilian sickle cell anemia patients. | de Carvalho-Siqueira GQ et al. | β | 2019 | β |
| Whole genome sequencing and rare variant analysis in essential tremor families. | Odgerel Z et al. | β | 2019 | β |
| A Bayesian framework for efficient and accurate variant prediction. | Qian D et al. | β | 2018 | β |
| Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms. | Seifi M et al. | β | 2018 | β |
| Allele-specific SHAPE-MaP assessment of the effects of somatic variation and protein binding on mRNA structure. | Lackey L et al. | β | 2018 | β |
| Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma. | Zilberg C et al. | β | 2018 | β |
| A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases. | Ko JM et al. | β | 2018 | β |
| A novel, homozygous mutation in <i>desert hedgehog</i> (<i>DHH</i>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. | Rothacker KM et al. | β | 2018 | β |
| A phenotype centric benchmark of variant prioritisation tools. | Anderson D et al. | β | 2018 | β |
| A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice. | Tran TN et al. | β | 2018 | β |
| Association Between LTF Polymorphism and Risk of HIV-1 Transmission Among Zambian Seropositive Mothers. | Zupin L et al. | β | 2018 | β |
| Bioinformatics analysis of non-synonymous variants in the KLF genes related to cardiac diseases. | Ferreira KKS et al. | β | 2018 | β |
| Cardiomyopathy and Preeclampsia. | Gammill HS et al. | β | 2018 | β |
| Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. | Cimmaruta C et al. | β | 2018 | β |
| Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. | Sarosiak A et al. | β | 2018 | β |
| Combined Small Cell Carcinoma of the Lung: Is It aΒ Single Entity? | Zhao X et al. | β | 2018 | β |
| Comprehensive Characterization of Cancer Driver Genes and Mutations. | Bailey MH et al. | β | 2018 | β |
| Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. | Agrahari AK et al. | β | 2018 | β |
| Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data. | Zhou Y et al. | β | 2018 | β |
| Correlation of genomic alterations between tumor tissue and circulating tumor DNA by next-generation sequencing. | Chang YS et al. | β | 2018 | β |
| Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach. | Gibbon A et al. | β | 2018 | β |
| De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. | Furey CG et al. | β | 2018 | β |
| Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data. | Coudray A et al. | β | 2018 | β |
| Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. | Johnson K et al. | β | 2018 | β |
| Differences in clinical characteristics and mutational pattern between synchronous and metachronous colorectal liver metastases. | Zheng P et al. | β | 2018 | β |
| Effects of genetic variants in the TSPO gene on protein structure and stability. | Milenkovic VM et al. | β | 2018 | β |
| ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations. | Zhou H et al. | β | 2018 | β |
| Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture. | Isakov O et al. | β | 2018 | β |
| Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family. | Kumar A et al. | β | 2018 | β |
| Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies. | Korvigo I et al. | β | 2018 | β |
| Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase. | Shrestha S et al. | β | 2018 | β |
| Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. | Hayashi T et al. | β | 2018 | β |
| Genetic Biopsy for Prediction of Surveillance Intervals after Endoscopic Resection of Colonic Polyps: Results of the GENESIS Study. | Berger AW et al. | β | 2018 | β |
| Genetic heterogeneity and actionable mutations in HER2-positive primary breast cancers and their brain metastases. | De Mattos-Arruda L et al. | β | 2018 | β |
| Genomic and expression profiling reveal molecular heterogeneity of disseminated tumor cells in bone marrow of early breast cancer. | Magbanua MJM et al. | β | 2018 | β |
| Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. | Matsunami N et al. | β | 2018 | β |
| Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines. | Ohmoto A et al. | β | 2018 | β |
| HUMA: A platform for the analysis of genetic variation in humans. | Brown DK et al. | β | 2018 | β |
| Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report. | Zhang X et al. | β | 2018 | β |
| Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses. | Liang WS et al. | β | 2018 | β |
| IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders. | Chen C et al. | β | 2018 | β |
| Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes. | Pezzilli S et al. | β | 2018 | β |
| In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. | Mahdavi M et al. | β | 2018 | β |
| In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population. | Morad FA et al. | β | 2018 | β |
| In silico characterization of functional single nucleotide polymorphisms of folate pathway genes. | Vohra M et al. | β | 2018 | β |
| IRS2 mutations linked to invasion in pleomorphic invasive lobular carcinoma. | Zhu S et al. | β | 2018 | β |
| Large-scale in-silico statistical mutagenesis analysis sheds light on the deleteriousness landscape of the human proteome. | Raimondi D et al. | β | 2018 | β |
| Loss of the FAT1 Tumor Suppressor Promotes Resistance to CDK4/6 Inhibitors via the Hippo Pathway. | Li Z et al. | β | 2018 | β |
| "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". | Abdalla E et al. | β | 2018 | β |
| <i>In silico</i> Prioritization of Transporter-Drug Relationships From Drug Sensitivity Screens. | CΓ©sar-Razquin A et al. | β | 2018 | β |
| m6ASNP: a tool for annotating genetic variants by m6A function. | Jiang S et al. | β | 2018 | β |
| m6AVar: a database of functional variants involved in m6A modification. | Zheng Y et al. | β | 2018 | β |
| MaxMIF: A New Method for Identifying Cancer Driver Genes through Effective Data Integration. | Hou Y et al. | β | 2018 | β |
| Mismatch repair deficiency in high-grade meningioma: a rare but recurrent event associated with dramatic immune activation and clinical response to PD-1 blockade. | Dunn IF et al. | β | 2018 | β |
| Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS. | Tantzer S et al. | β | 2018 | β |
| Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin. | Heimer G et al. | β | 2018 | β |
| New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation. | Kim J et al. | β | 2018 | β |
| Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy. | Tsuchida N et al. | β | 2018 | β |
| Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. | Liaqat K et al. | β | 2018 | β |
| Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors. | Pannuti A et al. | β | 2018 | β |
| Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population. | Semlali A et al. | β | 2018 | β |
| Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies. | Nuciforo S et al. | β | 2018 | β |
| Pan-Cancer Analysis Reveals the Functional Importance of Protein Lysine Modification in Cancer Development. | Chen L et al. | β | 2018 | β |
| Performance evaluation of pathogenicity-computation methods for missense variants. | Li J et al. | β | 2018 | β |
| Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine. | PGP-UK Consortium | β | 2018 | β |
| Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience. | Hoefflin R et al. | β | 2018 | β |
| Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. | Harada H et al. | β | 2018 | β |
| Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. | Murayama R et al. | β | 2018 | β |
| Positive selection drives the evolution of endocrine regulatory bone morphogenetic protein system in mammals. | Ahmad HI et al. | β | 2018 | β |
| Predicting the clinical impact of human mutation with deep neural networks. | Sundaram L et al. | β | 2018 | β |
| Prioritization and functional assessment of noncoding variants associated with complex diseases. | Zhou L et al. | β | 2018 | β |
| Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes. | Roca I et al. | β | 2018 | β |
| Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population. | Jiao X et al. | β | 2018 | β |
| RETRACTED: <i>KMT2C</i> Mutations in Diffuse-Type Gastric Adenocarcinoma Promote Epithelial-to-Mesenchymal Transition. | Cho SJ et al. | β | 2018 | β |
| Somatic mutations in early onset luminal breast cancer. | Encinas G et al. | β | 2018 | β |
| Somatic Sequencing Identifies Trametinib-Responsive Myelodysplastic Syndrome and Finds Acquired Clonal Hematopoiesis of Indeterminate Potential. | Vela CM et al. | β | 2018 | β |
| Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders. | Ittisoponpisan S et al. | β | 2018 | β |
| Structural dynamics is a determinant of the functional significance of missense variants. | Ponzoni L et al. | β | 2018 | β |
| Systematic pan-cancer analysis of somatic allele frequency. | Spurr L et al. | β | 2018 | β |
| Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study. | Sun Y et al. | β | 2018 | β |
| The Analysis of Variants in the General Population Reveals That <i>PMM2</i> Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers. | Citro V et al. | β | 2018 | β |
| The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing. | Yang F et al. | β | 2018 | β |
| The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivity testing in sarcoma. | Calvert N et al. | β | 2018 | β |
| VarCards: an integrated genetic and clinical database for coding variants in the human genome. | Li J et al. | β | 2018 | β |
| VAReporter: variant reporter for cancer research of massive parallel sequencing. | Huang PJ et al. | β | 2018 | β |
| WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. | Kobayashi M et al. | β | 2018 | β |
| Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. | Qiao D et al. | β | 2018 | β |
| Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition. | Mwesigwa S et al. | β | 2018 | β |
| Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis. | Sherrill JD et al. | β | 2018 | β |
| Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome. | Rim JH et al. | β | 2017 | β |
| A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22. | Agrahari AK et al. | β | 2017 | β |
| Acquired somatic <i>TP53</i> or <i>PIK3CA</i> mutations are potential predictors of when polyps evolve into colorectal cancer. | Chang PY et al. | β | 2017 | β |
| Advances and challenges in targeting FGFR signalling in cancer. | Babina IS et al. | β | 2017 | β |
| Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. | Chiereghin C et al. | β | 2017 | β |
| An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome. | Ferlaino M et al. | β | 2017 | β |
| Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols. | Li M et al. | β | 2017 | β |
| Annotating pathogenic non-coding variants in genic regions. | Gelfman S et al. | β | 2017 | β |
| A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets. | Requena T et al. | β | 2017 | β |
| Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. | Martell HJ et al. | β | 2017 | β |
| Association analysis identifies 65 new breast cancer risk loci. | Michailidou K et al. | β | 2017 | β |
| Benchmarking distributed data warehouse solutions for storing genomic variant information. | WiewiΓ³rka MS et al. | β | 2017 | β |
| Bioinformatics in translational drug discovery. | Wooller SK et al. | β | 2017 | β |
| Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes. | Gayarre J et al. | β | 2017 | β |
| Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome. | Kharrat M et al. | β | 2017 | β |
| Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy. | Holland KD et al. | β | 2017 | β |
| Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling. | AntΓΊnez-ArgΓΌelles E et al. | β | 2017 | β |
| Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis. | Banaganapalli B et al. | β | 2017 | β |
| Compromised BRCA1-PALB2 interaction is associated with breast cancer risk. | Foo TK et al. | β | 2017 | β |
| Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1. | Sucularli C et al. | β | 2017 | β |
| CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants. | Mercatanti A et al. | β | 2017 | β |
| Data resources for the identification and interpretation of actionable mutations by clinicians. | Prawira A et al. | β | 2017 | β |
| Decoding disease-causing mechanisms of missense mutations from supramolecular structures. | Hijikata A et al. | β | 2017 | β |
| DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins. | Raimondi D et al. | β | 2017 | β |
| Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach. | P S et al. | β | 2017 | β |
| Development of Bioinformatics Infrastructure for Genomics Research. | Mulder NJ et al. | β | 2017 | β |
| Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence. | de la Campa EΓ et al. | β | 2017 | β |
| Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. | Evers C et al. | β | 2017 | β |
| Drug Response Prediction as a Link Prediction Problem. | Stanfield Z et al. | β | 2017 | β |
| Ecological genomics of tropical trees: how local population size and allelic diversity of resistance genes relate to immune responses, cosusceptibility to pathogens, and negative density dependence. | Marden JH et al. | β | 2017 | β |
| EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. | Bailey JN et al. | β | 2017 | β |
| Elucidation of <i>MRAS</i>-mediated Noonan syndrome with cardiac hypertrophy. | Higgins EM et al. | β | 2017 | β |
| Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. | Kasahara T et al. | β | 2017 | β |
| Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. | Ghosh R et al. | β | 2017 | β |
| Exome Sequencing Identifies a Novel <i>MAP3K14</i> Mutation in Recessive Atypical Combined Immunodeficiency. | Schlechter N et al. | β | 2017 | β |
| Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. | Chow YP et al. | β | 2017 | β |
| Exploring the global landscape of genetic variation in coagulation factor XI deficiency. | Asselta R et al. | β | 2017 | β |
| Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of AΞ±, BΞ², and Ξ³ Chains. | Paraboschi EM et al. | β | 2017 | β |
| Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia. | Tamura M et al. | β | 2017 | β |
| Functional analysis reveals that RBM10 mutations contribute to lung adenocarcinoma pathogenesis by deregulating splicing. | Zhao J et al. | β | 2017 | β |
| Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction. | Wu Y et al. | β | 2017 | β |
| Functional significance of rare neuroligin 1 variants found in autism. | Nakanishi M et al. | β | 2017 | β |
| Genetic Heterogeneity in Therapy-NaΓ―ve Synchronous Primary Breast Cancers and Their Metastases. | Ng CKY et al. | β | 2017 | β |
| GTB - an online genome tolerance browser. | Shihab HA et al. | β | 2017 | β |
| High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE. | Castellana S et al. | β | 2017 | β |
| High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus. | Gjesing AP et al. | β | 2017 | β |
| High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. | Klauke B et al. | β | 2017 | β |
| HIPred: an integrative approach to predicting haploinsufficient genes. | Shihab HA et al. | β | 2017 | β |
| Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. | Zafari Z et al. | β | 2017 | β |
| Identification of ASAH1 as a susceptibility gene for familial keloids. | Santos-Cortez RLP et al. | β | 2017 | β |
| Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. | Johnson K et al. | β | 2017 | β |
| <i>In Silico</i> Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. | Borras E et al. | β | 2017 | β |
| IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants. | Knecht C et al. | β | 2017 | β |
| Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. | Evers C et al. | β | 2017 | β |
| Impact of genetic variation on three dimensional structure and function of proteins. | Bhattacharya R et al. | β | 2017 | β |
| In Silico Prediction of Deleteriousness for Nonsynonymous and Splice-Altering Single Nucleotide Variants in the Human Genome. | Jian X et al. | β | 2017 | β |
| Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State. | Raimondi D et al. | β | 2017 | β |
| Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. | Cai B et al. | β | 2017 | β |
| Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis. | Wada Y et al. | β | 2017 | β |
| Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. | Pejaver V et al. | β | 2017 | β |
| Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study. | Lozada JR et al. | β | 2017 | β |
| NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis. | Peri S et al. | β | 2017 | β |
| Overexpressed somatic alleles are enriched in functional elements in Breast Cancer. | Restrepo P et al. | β | 2017 | β |
| PERCH: A Unified Framework for Disease Gene Prioritization. | Feng BJ | β | 2017 | β |
| Phyllodes tumors with and without fibroadenoma-like areas display distinct genomic features and may evolve through distinct pathways. | Pareja F et al. | β | 2017 | β |
| PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update. | LΓ³pez-Ferrando V et al. | β | 2017 | β |
| POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. | Kitano T et al. | β | 2017 | β |
| Role of E542 and E545 missense mutations of PIK3CA in breast cancer: a comparative computational approach. | Thirumal Kumar D et al. | β | 2017 | β |
| Role of Structural Bioinformatics in Drug Discovery by Computational SNP Analysis: Analyzing Variation at the Protein Level. | Brown DK et al. | β | 2017 | β |
| Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment. | Sung SR et al. | β | 2017 | β |
| Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations. | Porkka N et al. | β | 2017 | β |
| Settling the score: variant prioritization and Mendelian disease. | Eilbeck K et al. | β | 2017 | β |
| Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in <i>FAM111A</i> gene. | Abraham MB et al. | β | 2017 | β |
| Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes. | Gress A et al. | β | 2017 | β |
| Structure-Based Analysis of Single Nucleotide Variants in the Renin-Angiotensinogen Complex. | Brown DK et al. | β | 2017 | β |
| The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. | Stenson PD et al. | β | 2017 | β |
| The Landscape of Somatic Genetic Alterations in Metaplastic Breast Carcinomas. | Ng CKY et al. | β | 2017 | β |
| The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. | He Z et al. | β | 2017 | β |
| TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis. | Bykhovskaya Y et al. | β | 2017 | β |
| Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. | Mahmood K et al. | β | 2017 | β |
| Variant Ranker: a web-tool to rank genomic data according to functional significance. | Alexander J et al. | β | 2017 | β |
| Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy. | Turkowski KL et al. | β | 2017 | β |
| Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. | Mendes de Almeida R et al. | β | 2017 | β |
| A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants. | Castellana S et al. | β | 2016 | β |
| A genetic network that suppresses genome rearrangements in Saccharomyces cerevisiae and contains defects in cancers. | Putnam CD et al. | β | 2016 | β |
| Alpha Helices Are More Robust to Mutations than Beta Strands. | AbrusΓ‘n G et al. | β | 2016 | β |
| A new tool for prioritization of sequence variants from whole exome sequencing data. | Glanzmann B et al. | β | 2016 | β |
| ApoCanD: Database of human apoptotic proteins in the context of cancer. | Kumar R et al. | β | 2016 | β |
| A profile-based method for identifying functional divergence of orthologous genes in bacterial genomes. | Wheeler NE et al. | β | 2016 | β |
| A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. | Beck DB et al. | β | 2016 | β |
| Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). | Douville C et al. | β | 2016 | β |
| Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study. | Peloso GM et al. | β | 2016 | β |
| A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data. | Hintzsche JD et al. | β | 2016 | β |
| CDH1/E-cadherin and solid tumors. An updated gene-disease association analysis using bioinformatics tools. | Abascal MF et al. | β | 2016 | β |
| CerealsDB 3.0: expansion of resources and data integration. | Wilkinson PA et al. | β | 2016 | β |
| Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants. | Nance D et al. | β | 2016 | β |
| Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits. | Golbus JR et al. | β | 2016 | β |
| Comparative functional characterization of novel non-syndromic <i>GJB2</i> gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu. | Rodriguez-Paris J et al. | β | 2016 | β |
| Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. | Mouden C et al. | β | 2016 | β |
| Computational assessment of feature combinations for pathogenic variant prediction. | KΓΆnig E et al. | β | 2016 | β |
| dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs. | Liu X et al. | β | 2016 | β |
| dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions. | Wu J et al. | β | 2016 | β |
| Developing maps of fitness consequences for plant genomes. | Joly-Lopez Z et al. | β | 2016 | β |
| Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres. | Babushok DV et al. | β | 2016 | β |
| DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics. | de Rosa N et al. | β | 2016 | β |
| Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. | Zeng B et al. | β | 2016 | β |
| ENTPRISE: An Algorithm for Predicting Human Disease-Associated Amino Acid Substitutions from Sequence Entropy and Predicted Protein Structures. | Zhou H et al. | β | 2016 | β |
| Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. | Evers C et al. | β | 2016 | β |
| Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. | Melchionda S et al. | β | 2016 | β |
| First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. | SoldΓ G et al. | β | 2016 | β |
| Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. | Li J et al. | β | 2016 | β |
| Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology. | Weisman PS et al. | β | 2016 | β |
| Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive. | Taudien S et al. | β | 2016 | β |
| Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. | Reddy HM et al. | β | 2016 | β |
| How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era. | Salgado D et al. | β | 2016 | β |
| Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. | Burris AM et al. | β | 2016 | β |
| iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing driver genes in personal cancer genomes. | Dong C et al. | β | 2016 | β |
| iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. | Wang M et al. | β | 2016 | β |
| IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. | Howard SR et al. | β | 2016 | β |
| IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples. | Hintzsche J et al. | β | 2016 | β |
| Impacts of Nonsynonymous Single Nucleotide Polymorphisms of Adiponectin Receptor 1 Gene on Corresponding Protein Stability: A Computational Approach. | Saleh MA et al. | β | 2016 | β |
| Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions. | Erzurumluoglu AM et al. | β | 2016 | β |
| Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. | Genovese G et al. | β | 2016 | β |
| Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes. | Hsu JS et al. | β | 2016 | β |
| KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily. | Pons T et al. | β | 2016 | β |
| Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression. | Piscuoglio S et al. | β | 2016 | β |
| M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. | Jagadeesh KA et al. | β | 2016 | β |
| Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer. | Riahi A et al. | β | 2016 | β |
| Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861AΒ >Β C mitochondrial mutation in the MT-ND1 gene. | Ammar M et al. | β | 2016 | β |
| Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. | Dubourg C et al. | β | 2016 | β |
| Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis. | Salvi A et al. | β | 2016 | β |
| Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations. | MΓ₯rtensson A et al. | β | 2016 | β |
| Mutation near the binding interfaces at Ξ±-hemoglobin stabilizing protein is highly pathogenic. | Borgio JF et al. | β | 2016 | β |
| Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. | Doan RN et al. | β | 2016 | β |
| Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. | Xu M et al. | β | 2016 | β |
| Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies. | MartinΓ³n-Torres F et al. | β | 2016 | β |
| NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. | Kenna KP et al. | β | 2016 | β |
| NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing. | Chang PY et al. | β | 2016 | β |
| Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. | Regalado ES et al. | β | 2016 | β |
| Perspectives in Polycystic Ovary Syndrome: From Hair to Eternity. | Dunaif A | β | 2016 | β |
| Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine. | Kotelnikova EA et al. | β | 2016 | β |
| REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. | Ioannidis NM et al. | β | 2016 | β |
| Self-regulation of functional pathways by motifs inside the disordered tails of beta-catenin. | Zhao B et al. | β | 2016 | β |
| Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships. | Sakr RA et al. | β | 2016 | β |
| Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. | Kang HG et al. | β | 2016 | β |
| The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. | Farrell CP et al. | β | 2016 | β |
| The Ensembl Variant Effect Predictor. | McLaren W et al. | β | 2016 | β |
| The Genomic Landscape of Male Breast Cancers. | Piscuoglio S et al. | β | 2016 | β |
| The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors. | Hoffmann MJ et al. | β | 2016 | β |
| The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants. | Al-Numair NS et al. | β | 2016 | β |
| Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model. | Maguire SL et al. | β | 2016 | β |
| Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. | Tang H et al. | β | 2016 | β |
| Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants. | Masica DL et al. | β | 2016 | β |
| Truncating and missense PPM1D mutations in early-onset and/or familial/hereditary prostate cancer patients. | Cardoso M et al. | β | 2016 | β |
| Uterine adenosarcomas are mesenchymal neoplasms. | Piscuoglio S et al. | β | 2016 | β |
| Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. | Buniello A et al. | β | 2016 | β |
| Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data. | Diaz-Montana JJ et al. | β | 2016 | β |
| Whole Exome Sequencing Identifies Rare Protein-Coding Variants in BehΓ§et's Disease. | Ognenovski M et al. | β | 2016 | β |
| Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. | Pathak A et al. | β | 2016 | β |
| Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. | Domenice S et al. | β | 2016 | β |
| wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases. | Vazquez M et al. | β | 2016 | β |
| Analysis of genetic variation and potential applications in genome-scale metabolic modeling. | Cardoso JG et al. | β | 2015 | β |
| Anatomy of protein disorder, flexibility and disease-related mutations. | Lu HC et al. | β | 2015 | β |
| A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. | Hofrichter MA et al. | β | 2015 | β |
| A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. | Bartoletti-Stella A et al. | β | 2015 | β |
| Bioinformatic Analysis of GJB2 Gene Missense Mutations. | Yilmaz A | β | 2015 | β |
| CoagVDb: a comprehensive database for coagulation factors and their associated SAPs. | Ali SK et al. | β | 2015 | β |
| Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. | Wang H et al. | β | 2015 | β |
| Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. | Erzurumluoglu AM et al. | β | 2015 | β |
| Insight into neutral and disease-associated human genetic variants through interpretable predictors. | van den Berg BA et al. | β | 2015 | β |
| Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma. | Sasaki MM et al. | β | 2015 | β |
| Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. | Pathak A et al. | β | 2015 | β |
| Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. | Miyagawa M et al. | β | 2015 | β |
| Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. | Hunter JM et al. | β | 2015 | β |
| Oncotator: cancer variant annotation tool. | Ramos AH et al. | β | 2015 | β |
| On human disease-causing amino acid variants: statistical study of sequence and structural patterns. | Petukh M et al. | β | 2015 | β |
| Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations. | Kehdy FS et al. | β | 2015 | β |
| PaPI: pseudo amino acid composition to score human protein-coding variants. | Limongelli I et al. | β | 2015 | β |
| Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants. | Rodrigues C et al. | β | 2015 | β |
| Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC. | Erzurumluoglu AM et al. | β | 2015 | β |
| Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease. | Moteki Y et al. | β | 2015 | β |
| Targeting tumor suppressor genes for cancer therapy. | Liu Y et al. | β | 2015 | β |
| The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. | Grimm DG et al. | β | 2015 | β |
| Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma. | Kloss-BrandstΓ€tter A et al. | β | 2015 | β |