Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.
paper
Cited
Public
Unavailable
- Authors
- GonzΓ‘lez-PΓ©rez, Abel; LΓ³pez-Bigas, Nuria
- Year
- 2011
- Journal
- American journal of human genetics
- PMID
- 21457909
- DOI
- 10.1016/j.ajhg.2011.03.004
- PMCID
- PMC3071923
Several large ongoing initiatives that profit from next-generation sequencing technologies have driven--and in coming years will continue to drive--the emergence of long catalogs of missense single-nucleotide variants (SNVs) in the human genome. As a consequence, researchers have developed various methods and their related computational tools to classify these missense SNVs as probably deleterious or probably neutral polymorphisms. The outputs produced by each of these computational tools are of different natures and thus difficult to compare and integrate. Taking advantage of the possible complementarity between different tools might allow more accurate classifications. Here we propose an effective approach to integrating the output of some of these tools into a unified classification; this approach is based on a weighted average of the normalized scores of the individual methods (WAS). (In this paper, the approach is illustrated for the integration of five tools.) We show that this WAS outperforms each individual method in the task of classifying missense SNVs as deleterious or neutral. Furthermore, we demonstrate that this WAS can be used not only for classification purposes (deleterious versus neutral mutation) but also as an indicator of the impact of the mutation on the functionality of the mutant protein. In other words, it may be used as a deleteriousness score of missense SNVs. Therefore, we recommend the use of this WAS as a consensus deleteriousness score of missense mutations (Condel).
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| A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. | FernΓ‘ndez-Marmiesse A et al. | β | 2018 | β |
| Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. | Bellido F et al. | β | 2018 | β |
| A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. | Ishida M et al. | β | 2018 | β |
| ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. | Alirezaie N et al. | β | 2018 | β |
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| Combination of exome sequencing and immune testing confirms Aicardi-GoutiΓ¨res syndrome type 5 in a challenging pediatric neurology case. | Haskell GT et al. | β | 2018 | β |
| Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants. | Kono TJY et al. | β | 2018 | β |
| Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data. | Zhou Y et al. | β | 2018 | β |
| Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. | Clemenceau A 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 |
| DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. | Hartill VL et al. | β | 2018 | β |
| Double hits in schizophrenia. | Vorstman JAS et al. | β | 2018 | β |
| Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs. | Li N et al. | β | 2018 | β |
| Exome sequencing reveals the genetic landscape and frequent inactivation of PCDHB3 in Chinese rectal cancers. | Ye W 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 |
| Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease. | Blue GM et al. | β | 2018 | β |
| Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing. | Zheng J et al. | β | 2018 | β |
| Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient. | Camargo RY et al. | β | 2018 | β |
| IDH1/2 Mutations Predict Shorter Survival in Chondrosarcoma. | Lugowska I et al. | β | 2018 | β |
| Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. | Hemerich D et al. | β | 2018 | β |
| IRS2 mutations linked to invasion in pleomorphic invasive lobular carcinoma. | Zhu S et al. | β | 2018 | β |
| Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. | Cox KH et al. | β | 2018 | β |
| Molecular analysis of PALB2-associated breast cancers. | Lee JEA et al. | β | 2018 | β |
| Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. | Li L et al. | β | 2018 | β |
| NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis. | Wang B 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 |
| Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. | Konrade I et al. | 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 |
| Poly ADP-ribose polymerase-1 as a potential therapeutic target in Merkel cell carcinoma. | Ferrarotto R 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 |
| Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database. | Wang T et al. | β | 2018 | β |
| RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms. | Isackson PJ et al. | β | 2018 | β |
| Screening of the <i>LAMB2, WT1, NPHS1</i>, and <i>NPHS2</i> Genes in Pediatric Nephrotic Syndrome. | Abid A 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 |
| The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing. | Yang F et al. | β | 2018 | β |
| Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants. | Benito-Vicente A et al. | β | 2018 | β |
| Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis. | Ben Rekaya M et al. | β | 2018 | β |
| Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. | Retshabile G et al. | β | 2018 | β |
| A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. | Stark Z et al. | β | 2017 | β |
| A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. | Brophy PD 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 |
| Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis. | Worthey EA | β | 2017 | β |
| Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. | Martell HJ 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 |
| Characterization of ADME gene variation in 21 populations by exome sequencing. | Hovelson DH et al. | β | 2017 | β |
| Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. | HortigΓΌela M et al. | β | 2017 | β |
| Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome. | Al-Ashwal AA 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 |
| Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature. | Porto WF 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 |
| Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype. | Sun J 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 |
| Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. | Yin Y 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 |
| Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing. | Buermans HP et al. | β | 2017 | β |
| GAVIN: Gene-Aware Variant INterpretation for medical sequencing. | van der Velde KJ et al. | β | 2017 | β |
| Gene-based segregation method for identifying rare variants in family-based sequencing studies. | Qiao D et al. | β | 2017 | β |
| Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family. | Haskell GT et al. | β | 2017 | β |
| Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. | Li L et al. | β | 2017 | β |
| <i>In silico</i> analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene. | Nimir M 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 genetic variation on three dimensional structure and function of proteins. | Bhattacharya R et al. | β | 2017 | β |
| In silico analyses of deleterious missense SNPs of human apolipoprotein E3. | Pires AS et al. | β | 2017 | β |
| Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. | Chen J et al. | β | 2017 | β |
| InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. | Li Q et al. | β | 2017 | β |
| Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases. | Schaafsma GCP et al. | β | 2017 | β |
| Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? | Chora JR et al. | β | 2017 | β |
| MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. | Gosalia N 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 |
| Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. | Badiner N et al. | β | 2017 | β |
| Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. | Bakhchane A et al. | β | 2017 | β |
| Novel <i>SOX17</i> frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations. | Walker CJ et al. | β | 2017 | β |
| Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. | Traynelis J et al. | β | 2017 | β |
| Path toward Precision Oncology: Review of Targeted Therapy Studies and Tools to Aid in Defining "Actionability" of a Molecular Lesion and Patient Management Support. | Chae YK et al. | β | 2017 | β |
| PERCH: A Unified Framework for Disease Gene Prioritization. | Feng BJ | 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 |
| Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia. | John J et al. | β | 2017 | β |
| Prediction of miRNA-mRNA Interactions Using miRGate. | AndrΓ©s-LeΓ³n E et al. | β | 2017 | β |
| Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. | Hendricks AE et al. | β | 2017 | β |
| Resources for Interpreting Variants in Precision Genomic Oncology Applications. | Tsang H et al. | β | 2017 | β |
| Screening of the <i>Filamin C</i> Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. | GΓ³mez J et al. | β | 2017 | β |
| Search for rare protein altering variants influencing susceptibility to multiple myeloma. | Scales M et al. | β | 2017 | β |
| Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. | Li MM et al. | β | 2017 | β |
| Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. | Wang P et al. | β | 2017 | β |
| The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. | Van Poucke M et al. | β | 2017 | β |
| The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types. | Fancello L et al. | β | 2017 | β |
| TITINdb-a computational tool to assess titin's role as a disease gene. | Laddach A et al. | β | 2017 | β |
| Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. | Broderick P 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 |
| Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. | Haskell GT 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 |
| Actionable Genes, Core Databases, and Locus-Specific Databases. | Pinard A et al. | β | 2016 | β |
| Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. | Chen B et al. | β | 2016 | β |
| Advances in computational approaches for prioritizing driver mutations and significantly mutated genes in cancer genomes. | Cheng F et al. | β | 2016 | β |
| Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group. | Logan M et al. | β | 2016 | β |
| Alpha Helices Are More Robust to Mutations than Beta Strands. | AbrusΓ‘n G et al. | β | 2016 | β |
| A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. | De Fuenmayor-FernΓ‘ndez De La Hoz CP et al. | β | 2016 | β |
| An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. | Paige Taylor S et al. | β | 2016 | β |
| A novel mutation in IL36RN underpins childhood pustular dermatosis. | Ellingford JM et al. | β | 2016 | β |
| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | Stark Z 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 |
| A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. | NoΓ«l ES et al. | β | 2016 | β |
| Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. | Bueno R et al. | β | 2016 | β |
| Computational approaches for predicting mutant protein stability. | Kulshreshtha S et al. | β | 2016 | β |
| Computational Approaches to Accelerating Novel Medicine and Better Patient Care from Bedside to Benchtop. | Sakellaropoulos T et al. | β | 2016 | β |
| Computational assessment of feature combinations for pathogenic variant prediction. | KΓΆnig E et al. | β | 2016 | β |
| Convert your favorite protein modeling program into a mutation predictor: "MODICT". | Tanyalcin I 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 |
| Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. | Branham K et al. | β | 2016 | β |
| Exome Sequencing Analysis in Severe, Early-Onset Chronic Obstructive Pulmonary Disease. | Qiao D et al. | β | 2016 | β |
| Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy. | D'Avila F et al. | β | 2016 | β |
| Exome sequencing reveals germline gain-of-function <i>EGFR</i> mutation in an adult with Lhermitte-Duclos disease. | Colby S et al. | β | 2016 | β |
| Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. | Soukarieh O et al. | β | 2016 | β |
| Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia. | Angarica VE 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 |
| Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders. | Homs A et al. | β | 2016 | β |
| Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. | Levine AP 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 |
| Genome Sequence Variability Predicts Drug Precautions and Withdrawals from the Market. | Lee KH et al. | β | 2016 | β |
| Global inference of disease-causing single nucleotide variants from exome sequencing data. | Wu M et al. | β | 2016 | β |
| GREM1 and POLE variants in hereditary colorectal cancer syndromes. | Rohlin A et al. | β | 2016 | β |
| Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. | Rafiullah R 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 |
| Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. | Mork ME et al. | β | 2016 | β |
| Identification of novel genetic causes of Rett syndrome-like phenotypes. | Lopes F 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 |
| Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment. | Shameer K 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 |
| Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use. | Patani H et al. | β | 2016 | β |
| Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. | Brown R et al. | β | 2016 | β |
| Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. | Gregianin E et al. | β | 2016 | β |
| MUFFINN: cancer gene discovery via network analysis of somatic mutation data. | Cho A 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 |
| NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. | AbulΓ A et al. | β | 2016 | β |
| Pathogenic germline MCM9 variants are rare in Australian Lynch-like syndrome patients. | Liu Q et al. | β | 2016 | β |
| POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. | Bellido F et al. | β | 2016 | β |
| Predicting regulatory variants with composite statistic. | Li MJ et al. | β | 2016 | β |
| Prediction of the impact of coding missense and nonsense single nucleotide polymorphisms on HD5 and HBD1 antibacterial activity against Escherichia coli. | Porto WF et al. | β | 2016 | β |
| Progress in methods for rare variant association. | Santorico SA et al. | β | 2016 | β |
| Prospective functional classification of all possible missense variants in PPARG. | Majithia AR et al. | β | 2016 | β |
| Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. | Chubb D et al. | β | 2016 | β |
| Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. | Olfson E et al. | β | 2016 | β |
| Reevaluation of RINT1 as a breast cancer predisposition gene. | Li N et al. | β | 2016 | β |
| Reproducible pharmacogenomic profiling of cancer cell line panels. | Haverty PM et al. | β | 2016 | β |
| REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. | Ioannidis NM et al. | β | 2016 | β |
| Robust classification of protein variation using structural modelling and large-scale data integration. | Baugh EH et al. | β | 2016 | β |
| Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. | Mur P et al. | β | 2016 | β |
| Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis. | Kinnersley B et al. | β | 2016 | β |
| Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. | Jaafar N et al. | β | 2016 | β |
| Structural impact analysis of missense SNPs present in the uroguanylin gene by long-term molecular dynamics simulations. | Marcolino AC et al. | β | 2016 | β |
| Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. | Dong Y et al. | β | 2016 | β |
| Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis. | Gao L et al. | β | 2016 | β |
| The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions. | Riera C et al. | β | 2016 | β |
| The degree of intratumor mutational heterogeneity varies by primary tumor sub-site. | Ledgerwood LG et al. | β | 2016 | β |
| The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response. | Pinto R 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 |
| Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. | Tang H et al. | β | 2016 | β |
| UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. | Salgado D et al. | β | 2016 | β |
| Unsupervised detection of cancer driver mutations with parsimony-guided learning. | Kumar RD et al. | β | 2016 | β |
| Variation Interpretation Predictors: Principles, Types, Performance, and Choice. | Niroula A et al. | β | 2016 | β |
| VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. | Hart SN et al. | β | 2016 | β |
| Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair. | Villalona-Calero MA et al. | β | 2016 | β |
| WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. | Pinard A et al. | β | 2016 | β |
| A comprehensive transcriptional portrait of human cancer cell lines. | Klijn C et al. | β | 2015 | β |
| A decision support framework for genomically informed investigational cancer therapy. | Meric-Bernstam F et al. | β | 2015 | β |
| AlstrΓΆm Syndrome: Mutation Spectrum of ALMS1. | Marshall JD et al. | β | 2015 | β |
| Analysis of genetic variation and potential applications in genome-scale metabolic modeling. | Cardoso JG et al. | β | 2015 | β |
| Annotation of Sequence Variants in Cancer Samples: Processes and Pitfalls for Routine Assays in the Clinical Laboratory. | Lee LA et al. | β | 2015 | β |
| A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. | PΓ©rez-Serra A et al. | β | 2015 | β |
| A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells. | Spinella JF et al. | β | 2015 | β |
| A Single Amino Acid Deletion (ΞF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. | Bahamonde MI et al. | β | 2015 | β |
| Better prediction of functional effects for sequence variants. | Hecht M et al. | β | 2015 | β |
| Bioinformatics for clinical next generation sequencing. | Oliver GR et al. | β | 2015 | β |
| Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase. | VΓ€liaho J et al. | β | 2015 | β |
| College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. | Aziz N et al. | β | 2015 | β |
| Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. | Dong C et al. | β | 2015 | β |
| Comparison of predicted and actual consequences of missense mutations. | Miosge LA et al. | β | 2015 | β |
| Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. | Courcet JB et al. | β | 2015 | β |
| Computational approaches to study the effects of small genomic variations. | Khafizov K et al. | β | 2015 | β |
| Computational methods and resources for the interpretation of genomic variants in cancer. | Tian R et al. | β | 2015 | β |
| Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. | Villanueva C et al. | β | 2015 | β |
| Cpipe: a shared variant detection pipeline designed for diagnostic settings. | Sadedin SP et al. | β | 2015 | β |
| Current trend of annotating single nucleotide variation in humans--A case study on SNVrap. | Li MJ et al. | β | 2015 | β |
| CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. | Thacher TD et al. | β | 2015 | β |
| De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. | Yu Y et al. | β | 2015 | β |
| Dintor: functional annotation of genomic and proteomic data. | Weichenberger CX et al. | β | 2015 | β |
| Driver and passenger mutations in cancer. | Pon JR et al. | β | 2015 | β |
| Exome analysis reveals differentially mutated gene signatures of stage, grade and subtype in breast cancers. | Li Y et al. | β | 2015 | β |
| Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways. | Suleiman SH et al. | β | 2015 | β |
| Exome Sequencing Reveals Germline SMAD9 Mutation That Reduces Phosphatase and Tensin Homolog Expression and Is Associated With Hamartomatous Polyposis and Gastrointestinal Ganglioneuromas. | Ngeow J et al. | β | 2015 | β |
| Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer. | Donner I et al. | β | 2015 | β |
| Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression. | Li MJ et al. | β | 2015 | β |
| Functional and in silico assessment of MAX variants of unknown significance. | Comino-MΓ©ndez I et al. | β | 2015 | β |
| Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer. | Hao C et al. | β | 2015 | β |
| Genetic analysis, in silico prediction, and family segregation in long QT syndrome. | RiurΓ³ H et al. | β | 2015 | β |
| Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. | Allegue C et al. | β | 2015 | β |
| Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia. | Safavi S et al. | β | 2015 | β |
| Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. | Partemi S et al. | β | 2015 | β |
| Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. | Chubb D et al. | β | 2015 | β |
| Genome-wide burden of deleterious coding variants increased in schizophrenia. | Loohuis LMO et al. | β | 2015 | β |
| Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma. | Sharpe HJ et al. | β | 2015 | β |
| Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. | Yehia L et al. | β | 2015 | β |
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| High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. | Lee K et al. | β | 2015 | β |
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