Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

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Perspectives in polycystic ovary syndrome: From hair to eternity

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases

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Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

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Assessment of mutation probabilities of KRAS G12 missense mutants and their long-timescale dynamics by atomistic molecular simulations and Markov state modeling

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Genetics of Bipolar Disorder

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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

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Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia

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Recurrent gene flow between Neanderthals and modern humans over the past 200,000 years

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Estimating the Unseen: Improved Estimators for Entropy and other Properties

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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

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Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck

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Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

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Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

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DriverDB: an exome sequencing database for cancer driver gene identification

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

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Hunting human disease genes: lessons from the past, challenges for the future

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Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

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Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

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Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children

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Neutral genomic regions refine models of recent rapid human population growth

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Managing the ethical challenges of next-generation sequencing in genomic medicine

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Integrating imaging and omics data: A review

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Comparison of Single Genome and Allele Frequency Data Reveals Discordant Demographic Histories

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Efficient inference of population size histories and locus-specific mutation rates from large-sample genomic variation dataPreprint

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A Rare SNP Identified a TCP Transcription Factor Essential for Tendril Development in Cucumber

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Comprehensive Characterization of Human Genome Variation by High Coverage Whole-Genome Sequencing of Forty Four Caucasians

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Combining Structural Modeling with Ensemble Machine Learning to Accurately Predict Protein Fold Stability and Binding Affinity Effects upon Mutation

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Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

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Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

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Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions

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Deafness in the Genomics Era

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Prediction of drug response and adverse drug reactions: From twin studies to Next Generation Sequencing

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Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

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Pulmonary fibrosis in the era of stratified medicine

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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

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Next-generation data filtering in the genomics era

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GWAS and drug targets

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RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants

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Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data

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Genotyping and phenotyping of platelet function disorders

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Descartes’ rule of signs and the identifiability of population demographic models from genomic variation data

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Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome

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Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

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Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

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High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability

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Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

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The genetics and functional analysis of primary osteoarthritis susceptibility

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The effects of sample size on population genomic analyses – implications for the tests of neutrality

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Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness

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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

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Interpreting human genetic variation with in vivo zebrafish assays

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Genes with monoallelic expression contribute disproportionately to genetic diversity in humans

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Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans

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Post-GWAS: where next? More samples, more SNPs or more biology?

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GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

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Population Growth Inflates the Per-Individual Number of Deleterious Mutations and Reduces Their Mean Effect

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Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

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ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

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Genes and epigenetic processes as prospective pain targets

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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

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Novel translational approaches to the search for precision therapies for acute respiratory distress syndrome

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Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

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Dissecting complex traits using the Drosophila Synthetic Population Resource

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No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

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Genetic Analysis of Rare Human Variants of Regulators of G Protein Signaling Proteins and Their Role in Human Physiology and Disease

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Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

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Human demographic history has amplified the effects of background selection across the genome

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Genomic Medicine, Precision Medicine, Personalized Medicine: What’s in a Name?

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The Role of Next-Generation Sequencing in Pharmacogenetics and PharmacogenomicsPreprint

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Genetics of sudden cardiac death caused by ventricular arrhythmias

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Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

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Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

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DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

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Resolving the etiology of atopic disorders by using genetic analysis of racial ancestry

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The Genetic Architecture of Type 1 Diabetes

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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

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Structural Basis for VEGF-C Binding to Neuropilin-2 and Sequestration by a Soluble Splice Form

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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

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Human genome variability, natural selection and infectious diseases

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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

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Estimating Time to the Common Ancestor for a Beneficial Allele

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An evolutionary perspective on genetic load in small, isolated populations as informed by whole genome resequencing and forward-time simulations

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Related F-box proteins control cell death in Caenorhabditis elegans and human lymphoma

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Systems Biology Approach Reveals Genome to Phenome Correlation in Type 2 Diabetes

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Mapping of Genotype–Phenotype Diversity among Clinical Isolates of Mycobacterium tuberculosis by Sequence-Based Transcriptional Profiling

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Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines

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Genomic analysis of DNA repair genes and androgen signaling in prostate cancer

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Shades of complexity: New perspectives on the evolution and genetic architecture of human skin

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Analysis of 2,440 human exomes highlights the evolution and functional impact of rare coding variation

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Rare variation in human populations

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Reports An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2014)

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

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Effective detection of rare variants in pooled DNA samples using cross-pool tail-curve analysis

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