Exome sequencing identifies the cause of a mendelian disorder.
paper
Cited
Public
- Authors
- Ng, Sarah B; Buckingham, Kati J; Lee, Choli; Bigham, Abigail W; Tabor, Holly K; Dent, Karin M; Huff, Chad D; Shannon, Paul T; Jabs, Ethylin Wang; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael J
- Year
- 2010
- Journal
- Nature genetics
- PMID
- 19915526
- DOI
- 10.1038/ng.499
- PMCID
- PMC2847889
We demonstrate the first successful application of exome sequencing to discover the gene for a rare mendelian disorder of unknown cause, Miller syndrome (MIM%263750). For four affected individuals in three independent kindreds, we captured and sequenced coding regions to a mean coverage of 40x and sufficient depth to call variants at approximately 97% of each targeted exome. Filtering against public SNP databases and eight HapMap exomes for genes with two previously unknown variants in each of the four individuals identified a single candidate gene, DHODH, which encodes a key enzyme in the pyrimidine de novo biosynthesis pathway. Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome. Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Clinical characteristics of an individual with Miller syndrome (A,B) and an individual with methotrexate embryopathy (C,D)A 9 year-old boy with Miller syndrome (A and B) caused by mutations in DHODH. Facial anomalies (A) include cupped ears, coloboma of the lower eyelids, prominent nose, micrognathia and absence of the 5th digits of the feet (B). A 26 year-old man with methotrexate embryopathy (C and D). Note the cupped ears, hypertelorism, sparse eyebrows, and prominent nose (C) accompanied by absence of the 4th and 5th digits of the feet (D). C and D are reprinted with permission from Bawle et al. Teratology 57:51-55 (1978).
Genomic structure of the exons encoding the open reading frame of DHODHDHODH is composed of 9 exons that encode untranslated regions (orange) and protein coding sequence (blue). Arrows indicate the locations of 11 different mutations found in 6 families with Miller syndrome.
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| Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy. | Guo J et al. | β | 2020 | β |
| Zebrafish Models of Craniofacial Malformations: Interactions of Environmental Factors. | Raterman ST et al. | β | 2020 | β |
| Abnormal expression and mutation of the RBPJ gene may be involved in CD59<sup>-</sup> clonal proliferation in paroxysmal nocturnal hemoglobinuria. | Li L et al. | β | 2019 | β |
| An efficient and cost-effective method for primer-induced nucleotide labeling for massive sequencing on next-generation sequencing platforms. | Guo J et al. | β | 2019 | β |
| A novel mutation in a common pathogenic gene (<i>SETD5</i>) associated with intellectual disability: A case report. | Fang YL et al. | β | 2019 | β |
| Artificial intelligence for precision medicine in neurodevelopmental disorders. | Uddin M et al. | β | 2019 | β |
| CAD, A Multienzymatic Protein at the Head of de Novo Pyrimidine Biosynthesis. | Del CaΓ±o-Ochoa F et al. | β | 2019 | β |
| Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. | Bick D et al. | β | 2019 | β |
| Complete Tracheal Ring Deformity. A Translational Genomics Approach to Pathogenesis. | Sinner DI et al. | β | 2019 | β |
| Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans. | Jones CC et al. | β | 2019 | β |
| Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases. | Liu HY et al. | β | 2019 | β |
| eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. | Bosio M et al. | β | 2019 | β |
| Established and emerging strategies to crack the genetic code of obesity. | Tam V et al. | β | 2019 | β |
| Exclusion and Genomic Relatedness Methods for Assignment of Parentage Using Genotyping-by-Sequencing Data. | Dodds KG et al. | β | 2019 | β |
| Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia. | Hajjari M et al. | β | 2019 | β |
| Exome Sequencing in Clinical Hepatology. | Vilarinho S et al. | β | 2019 | β |
| Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. | Thormann A et al. | β | 2019 | β |
| Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia. | Gocho Y et al. | β | 2019 | β |
| Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. | Robbins SM et al. | β | 2019 | β |
| Hepatic gene expression variations in response to high-fat diet-induced impaired glucose tolerance using RNAseq analysis in collaborative cross mouse population. | Abu-Toamih Atamni HJ et al. | β | 2019 | β |
| High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders. | Brommage R et al. | β | 2019 | β |
| Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma. | Winter H et al. | β | 2019 | β |
| Impact of next generation sequencing on our understanding of CAKUT. | Nigam A et al. | β | 2019 | β |
| Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants. | Bureau A et al. | β | 2019 | β |
| Insights into genetics, human biology and disease gleaned from family based genomic studies. | Posey JE et al. | β | 2019 | β |
| Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease. | Yemni EA et al. | β | 2019 | β |
| Integration of target discovery, drug discovery and drug delivery: A review on computational strategies. | Duarte Y et al. | β | 2019 | β |
| Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. | Demeer B et al. | β | 2019 | β |
| Mendelian Gene Discovery: Fast and Furious with No End in Sight. | Bamshad MJ et al. | β | 2019 | β |
| Mutations of RAS genes in endometrial polyps. | Takeda T et al. | β | 2019 | β |
| Neural crest contributions to the ear: Implications for congenital hearing disorders. | Ritter KE et al. | β | 2019 | β |
| Next-Generation Sequencing: An Emerging Tool for Drug Designing. | Tripathi P et al. | β | 2019 | β |
| Nosology and classification of genetic skeletal disorders: 2019 revision. | Mortier GR et al. | β | 2019 | β |
| Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization. | Jagadeesh KA et al. | β | 2019 | β |
| Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders. | Deng L et al. | β | 2019 | β |
| Revisiting the role of dihydroorotate dehydrogenase as a therapeutic target for cancer. | Madak JT et al. | β | 2019 | β |
| SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. | Campion D et al. | β | 2019 | β |
| Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. | Brunelli L et al. | β | 2019 | β |
| The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. | Girisha KM et al. | β | 2019 | β |
| Traditional Prenatal Diagnosis: Past to Present. | Levy B et al. | β | 2019 | β |
| Using Genetic Burden Scores for Gene-by-Methylation Interaction Analysis on Metabolic Syndrome in African Americans. | Taylor JY et al. | β | 2019 | β |
| Using mechanistic models for the clinical interpretation of complex genomic variation. | PeΓ±a-Chilet M et al. | β | 2019 | β |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. | Ullah I et al. | β | 2019 | β |
| Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a threeβgeneration family with endometriosis. | Albertsen HM et al. | β | 2019 | β |
| Yin Yang 1 Orchestrates a Metabolic Program Required for Both Neural Crest Development and Melanoma Formation. | Varum S et al. | β | 2019 | β |
| A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis. | Vezain M et al. | β | 2018 | β |
| Alteration of tumor suppressor BMP5 in sporadic colorectal cancer: a genomic and transcriptomic profiling based study. | Chen E et al. | β | 2018 | β |
| A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. | Zhang C et al. | β | 2018 | β |
| An <i>OTOF</i> Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder. | Xia H et al. | β | 2018 | β |
| Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. | Rao AR et al. | β | 2018 | β |
| Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data. | Koko M et al. | β | 2018 | β |
| Clinical presentation and diagnosis of mucopolysaccharidoses. | Stapleton M et al. | β | 2018 | β |
| Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. | Nambot S et al. | β | 2018 | β |
| Combinatorial Approach for Complex Disorder Prediction: Case Study of Neurodevelopmental Disorders. | Huynh L et al. | β | 2018 | β |
| Computational drug repositioning for rare diseases in the era of precision medicine. | Delavan B et al. | β | 2018 | β |
| CRISPR-Cas9 human gene replacement and phenomic characterization in <i>Caenorhabditis elegans</i> to understand the functional conservation of human genes and decipher variants of uncertain significance. | McDiarmid TA et al. | β | 2018 | β |
| Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. | Son JH et al. | β | 2018 | β |
| Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins. | Cho Y et al. | β | 2018 | β |
| Diagnosing rare diseases after the exome. | FrΓ©sard L et al. | β | 2018 | β |
| Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS). | Gao C et al. | β | 2018 | β |
| Familial early-onset deep venous thrombosis associated with a novel HRG mutation. | Luo J et al. | β | 2018 | β |
| Functional annotation of genomic variants in studies of late-onset Alzheimer's disease. | Butkiewicz M et al. | β | 2018 | β |
| GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. | Koile D et al. | β | 2018 | β |
| Genomic Interventions in Medicine. | Aworunse OS et al. | β | 2018 | β |
| High-throughput mouse phenomics for characterizing mammalian gene function. | Brown SDM et al. | β | 2018 | β |
| Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta. | Quist EM et al. | β | 2018 | β |
| Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis. | Guan H et al. | β | 2018 | β |
| Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. | Li S et al. | β | 2018 | β |
| Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era. | DiStefano JK et al. | β | 2018 | β |
| Identification of novel genomic imbalances in Saudi patients with congenital heart disease. | Al-Hassnan ZN et al. | β | 2018 | β |
| Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). | Leung GKC et al. | β | 2018 | β |
| Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease. | Dehiya V et al. | β | 2018 | β |
| Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. | Brasil S et al. | β | 2018 | β |
| IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. | Shigemizu D et al. | β | 2018 | β |
| Integrative omics for health and disease. | Karczewski KJ et al. | β | 2018 | β |
| Leflunomide use during pregnancy and the risk of adverse pregnancy outcomes. | BΓ©rard A et al. | β | 2018 | β |
| Let's think again about using mammalian temperature-sensitive mutants to investigate functional molecules-The perspectives from the studies on three mutants showing chromosome instability. | Sugaya K | β | 2018 | β |
| <i>Bombyx mori</i> Dihydroorotate Dehydrogenase: Knockdown Inhibits Cell Growth and Proliferation via Inducing Cell Cycle Arrest. | Zhao E et al. | β | 2018 | β |
| Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. | Vincent QB et al. | β | 2018 | β |
| Neurocristopathies: New insights 150 years after the neural crest discovery. | Vega-Lopez GA et al. | β | 2018 | β |
| Neurometabolic disorders and congenital malformations of the central nervous system. | BoAli AY et al. | β | 2018 | β |
| New perspectives on the roles of pyrimidines in the central nervous system. | LΓΆffler M et al. | β | 2018 | β |
| NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. | Fernandez-Marmiesse A et al. | β | 2018 | β |
| Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features. | Upadia J et al. | β | 2018 | β |
| Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. | Waller RG et al. | β | 2018 | β |
| Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. | Zhou Z et al. | β | 2018 | β |
| Perspectives on Glycosylation and Its Congenital Disorders. | Ng BG et al. | β | 2018 | β |
| Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. | Chai S et al. | β | 2018 | β |
| Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations. | Martin LJ et al. | β | 2018 | β |
| Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part. | Brett T et al. | β | 2018 | β |
| Strategies for processing and quality control of Illumina genotyping arrays. | Zhao S et al. | β | 2018 | β |
| The emergence of dihydroorotate dehydrogenase (DHODH) as a therapeutic target in acute myeloid leukemia. | Sykes DB | β | 2018 | β |
| The role of genomics in transfusion medicine. | Wheeler MM et al. | β | 2018 | β |
| The role of <i>UNC5C</i> in Alzheimer's disease. | Li Q et al. | β | 2018 | β |
| Using Genome Sequence to Enable the Design of Medicines and Chemical Probes. | Angelbello AJ et al. | β | 2018 | β |
| VAReporter: variant reporter for cancer research of massive parallel sequencing. | Huang PJ et al. | β | 2018 | β |
| Whole Exome Library Construction for Next Generation Sequencing. | Liang WS et al. | β | 2018 | β |
| Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease. | Razmara E et al. | β | 2018 | β |
| Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. | Lata S et al. | β | 2018 | β |
| XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets. | Yu Y et al. | β | 2018 | β |
| A deletion in the intergenic region upstream of Ednrb causes head spot in the rat strain KFRS4/Kyo. | Yoshihara M et al. | β | 2017 | β |
| A human immunodeficiency syndrome caused by mutations in CARMIL2. | Schober T et al. | β | 2017 | β |
| A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans. | Goebel K 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 |
| Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. | van Haaften-Visser DY et al. | β | 2017 | β |
| A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents. | Tongkobpetch S et al. | β | 2017 | β |
| A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. | Naseer MI 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 |
| A RaDiCAL gene hunt. | Pupavac M et al. | β | 2017 | β |
| Association of NOD2 Mutations with Aggressive Periodontitis. | Sudo T et al. | β | 2017 | β |
| Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. | Farwell Hagman KD et al. | β | 2017 | β |
| Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing. | Hoebel AK et al. | β | 2017 | β |
| Comparative study of whole genome amplification and next generation sequencing performance of single cancer cells. | Babayan A et al. | β | 2017 | β |
| Comprehensive functional genomics using Caenorhabditis elegans as a model organism. | Mitani S | β | 2017 | β |
| Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. | Sanchez JC et al. | β | 2017 | β |
| Deriving genomic diagnoses without revealing patient genomes. | Jagadeesh KA et al. | β | 2017 | β |
| Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. | Liu HY et al. | β | 2017 | β |
| Enhanced methods to detect haplotypic effects on gene expression. | Brown R et al. | β | 2017 | β |
| Evaluating somatic tumor mutation detection without matched normal samples. | Teer JK et al. | β | 2017 | β |
| Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway. | Andreoletti G et al. | β | 2017 | β |
| [Exome and transcriptome sequencing as complementary approaches for disease gene identification]. | RΓΆtig A | β | 2017 | β |
| Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. | Kos MZ et al. | β | 2017 | β |
| Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. | Mukda E et al. | β | 2017 | β |
| Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms. | Zhang W 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 |
| Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate. | Liu H et al. | β | 2017 | β |
| Fluorescence assay of dihydroorotate dehydrogenase that may become a cancer biomarker. | Yin S et al. | β | 2017 | β |
| From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. | Holm IA et al. | β | 2017 | β |
| Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies. | Chakravorty S 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 |
| Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2. | Thangaraju K et al. | β | 2017 | β |
| Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. | Loredana Asztalos M et al. | β | 2017 | β |
| How Sensitive Is Genetic Data? | Sariyar M et al. | β | 2017 | β |
| Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation. | Cassina M et al. | β | 2017 | β |
| Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing. | Li Y et al. | β | 2017 | β |
| Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. | Tsuboi M et al. | β | 2017 | β |
| Idiopathic systemic capillary leak syndrome (Clarkson disease). | Druey KM et al. | β | 2017 | β |
| Idiosyncratic drug-induced liver injury: A short review. | Yamashita YI et al. | β | 2017 | β |
| Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. | Borghesi A et al. | β | 2017 | β |
| IPED2: Inheritance Path Based Pedigree Reconstruction Algorithm for Complicated Pedigrees. | He D et al. | β | 2017 | β |
| Leveraging multiple genomic data to prioritize disease-causing indels from exome sequencing data. | Wu M et al. | β | 2017 | β |
| Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. | Bashir RA et al. | β | 2017 | β |
| mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications. | Li Z et al. | β | 2017 | β |
| Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening. | Chen J et al. | β | 2017 | β |
| Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. | Wang Q et al. | β | 2017 | β |
| Novel variant in the <i>FGD1</i> gene causing Aarskog-Scott syndrome. | Ge Y et al. | β | 2017 | β |
| Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data. | Kim BY et al. | β | 2017 | β |
| PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies. | Liao P et al. | β | 2017 | β |
| QueryOR: a comprehensive web platform for genetic variant analysis and prioritization. | Bertoldi L et al. | β | 2017 | β |
| Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. | Terrazas K et al. | β | 2017 | β |
| Semantic prioritization of novel causative genomic variants. | Boudellioua I et al. | β | 2017 | β |
| Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. | Hitomi Y et al. | β | 2017 | β |
| Single nucleotide variant sequencing errors in whole exome sequencing using the Ion Proton System. | Fujita S et al. | β | 2017 | β |
| Small molecule screen in embryonic zebrafish using modular variations to target segmentation. | Richter S et al. | β | 2017 | β |
| Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. | Mierzewska H et al. | β | 2017 | β |
| Synonymous Codon Usage Controls Various Molecular Aspects. | Im EH et al. | β | 2017 | β |
| Targeted sequencing of both DNA strands barcoded and captured individually by RNA probes to identify genome-wide ultra-rare mutations. | Wang Q et al. | β | 2017 | β |
| The dihydroorotate dehydrogenases: Past and present. | Reis RAG et al. | β | 2017 | β |
| The Molecular Revolution in Cutaneous Biology: EraΒ of Next-Generation Sequencing. | Sarig O et al. | β | 2017 | β |
| Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations. | Broeckx BJG et al. | β | 2017 | β |
| Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. | Wang N 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 |
| Very early onset inflammatory bowel disease. | Moran CJ | β | 2017 | β |
| Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family. | Chen D et al. | β | 2017 | β |
| Whole Exome Sequencing Identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree. | Fu S et al. | β | 2017 | β |
| Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. | Rengasamy Venugopalan S et al. | β | 2017 | β |
| Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. | Alodaib A et al. | β | 2017 | β |
| Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease. | Salas A et al. | β | 2017 | β |
| Whole exome sequencing: Uncovering causal genetic variants for ocular diseases. | Gupta S et al. | β | 2017 | β |
| 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. | Dopazo J et al. | β | 2016 | β |
| A computational method for genotype calling in family-based sequencing data. | Chang LC et al. | β | 2016 | β |
| Advancements in Next-Generation Sequencing. | Levy SE et al. | β | 2016 | β |
| A Framework for Prioritizing Research Investments in Precision Medicine. | Basu A et al. | β | 2016 | β |
| Against all odds: blended phenotypes of three single-gene defects. | Li Y et al. | β | 2016 | β |
| A hexIM1 on your melanocytes: transcription elongation - the Achilles' heel of melanoma? | Badrock A et al. | β | 2016 | β |
| Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. | Marques F 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 |
| A nonparametric method to test for associations between rare variants and multiple traits. | Zhou Y et al. | β | 2016 | β |
| A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery. | Chandler MR et al. | β | 2016 | β |
| Assessment of the clinical application of detecting EGFR, KRAS, PIK3CA and BRAF mutations in patients with non-small cell lung cancer using next-generation sequencing. | Xu X et al. | β | 2016 | β |
| A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. | OzantΓΌrk A et al. | β | 2016 | β |
| Bronchus-associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency. | Mock JR et al. | β | 2016 | β |
| Can whole-exome sequencing data be used for linkage analysis? | Gazal S et al. | β | 2016 | β |
| Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype. | Li N et al. | β | 2016 | β |
| Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing. | Okazaki T et al. | β | 2016 | β |
| Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. | Agarwal AM et al. | β | 2016 | β |
| Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton. | Lacoste C et al. | β | 2016 | β |
| Critical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension. | Hemnes AR et al. | β | 2016 | β |
| Deep phenotyping predicts Huntington's genotype. | Ruderfer DM et al. | β | 2016 | β |
| Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review. | Hidalgo-Bravo A et al. | β | 2016 | β |
| Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat. | Yoshihara M et al. | β | 2016 | β |
| Development of a robust DNA quality and quantity assessment qPCR assay for targeted next-generation sequencing library preparation. | Dang J et al. | β | 2016 | β |
| Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts. | Fang J et al. | β | 2016 | β |
| Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. | Monroe GR et al. | β | 2016 | β |
| Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. | Duley JA et al. | β | 2016 | β |
| Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2. | D'Aurizio R et al. | β | 2016 | β |
| Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations. | Adebali O et al. | β | 2016 | β |
| Evaluation of somatic copy number estimation tools for whole-exome sequencing data. | Nam JY et al. | β | 2016 | β |
| Evolutionary and Functional Features of Copy Number Variation in the Cattle Genome. | Keel BN et al. | β | 2016 | β |
| Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. | Stranneheim H 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 a review of new strategies for rare genomic disease research. | Brown TL et al. | β | 2016 | β |
| Exome sequencing explained: a practical guide to its clinical application. | Seaby EG et al. | β | 2016 | β |
| Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. | Lund C et al. | β | 2016 | β |
| Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired <i>Pseudomonas aeruginosa</i> Sepsis. | Asgari S et al. | β | 2016 | β |
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. | Fokstuen S et al. | β | 2016 | β |
| Genetics of bicuspid aortic valve aortopathy. | Andreassi MG et al. | β | 2016 | β |
| Genetic studies in intellectual disability and related disorders. | Vissers LE et al. | β | 2016 | β |
| Genome Wide Sampling Sequencing for SNP Genotyping: Methods, Challenges and Future Development. | Jiang Z et al. | β | 2016 | β |
| Genomic approaches to bleeding disorders. | Peyvandi F et al. | β | 2016 | β |
| Genomic Landscape of Colorectal Mucosa and Adenomas. | Borras E et al. | β | 2016 | β |
| High-performance web services for querying gene and variant annotation. | Xin J et al. | β | 2016 | β |
| Human genomics: A deep dive into genetic variation. | Shendure J | β | 2016 | β |
| Identification of novel SNPs in differentially expressed genes and its association with horn cancer of Bos indicus bullocks by next-generation sequencing. | Koringa PG et al. | β | 2016 | β |
| Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes. | Clop A 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 |
| Inhibition of Dihydroorotate Dehydrogenase Overcomes Differentiation Blockade in Acute Myeloid Leukemia. | Sykes DB et al. | β | 2016 | β |
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| Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. | Gong B et al. | β | 2015 | β |
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| Exome sequencing identifies novel ApoB loss-of-function mutations causing hypobetalipoproteinemia in type 1 diabetes. | Gao F et al. | β | 2015 | β |
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| Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. | Liu X et al. | β | 2015 | β |
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| Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing. | Jiang Y et al. | β | 2015 | β |
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| Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism. | Fuchs SA et al. | β | 2012 | β |
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| Exome sequencing identifies FUS mutations as a cause of essential tremor. | Merner ND et al. | β | 2012 | β |
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| Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. | Carta E et al. | β | 2012 | β |
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| Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. | Chatterjee R et al. | β | 2012 | β |
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| Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. | Chou J et al. | β | 2012 | β |
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| Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy. | Zhi D et al. | β | 2012 | β |
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