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

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations

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Introduction to Genetics and Genomics in Asthma: Genetics of Asthma

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Identification of a Novel Pathogenic Germline KDR Variant in Melanoma

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Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

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Recent trends in and new data on the epidemiology and prevention of non-communicable diseases

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Requirements for Comprehensive Pharmacogenetic Genotyping Platforms

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My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings

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GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing

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CDKN2AGermline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants

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The 3D mutational constraint on amino acid sites in the human proteome

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Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects

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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

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Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

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Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

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Precision medicine — networks to the rescue

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Canalization and Robustness in Human Genetics and Disease

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Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion

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Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

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Rare deleterious germline variants and risk of lung cancer

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

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Rare Variant APOC3 R19X Is Associated With Cardio-Protective Profiles in a Diverse Population-Based Survey as Part of the Epidemiologic Architecture for Genes Linked to Environment Study

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Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations

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Identification and functional analysis ofCORINvariants in hypertensive patients

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Developing an Evolutionary Baseline Model for Humans: Jointly Inferring Purifying Selection with Population History

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Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via Off-Target Sequence Reads

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Translational paradigms in pharmacology and drug discovery

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Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism

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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

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Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases

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Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

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Identifying and exploiting trait-relevant tissues with multiple functional annotations in genome-wide association studies

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Population Diversity in Pharmacogenetics: A Latin American Perspective

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics

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Localizing and Classifying Adaptive Targets with Trend Filtered Regression

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A Clinical Drug‐Drug Interaction Study Assessing a Novel Drug Transporter Phenotyping Cocktail With Adefovir, Sitagliptin, Metformin, Pitavastatin, and Digoxin

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Rare variants in LRRK1 and Parkinson's disease

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Causality in Genetics

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Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traitsPreprint

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Dissecting Quantitative Traits in Mice

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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

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Optimal sequencing strategies for identifying disease-associated singletons

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The transcriptomes of cave and surface populations of Gammarus minus (Crustacea: Amphipoda) provide evidence for positive selection on cave downregulated transcripts

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Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor

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Genomic inference using diffusion models and the allele frequency spectrum

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Therapeutic targets of triglyceride metabolism as informed by human genetics

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Massively parallel sequencing: the new frontier of hematologic genomics

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The role of the interactome in the maintenance of deleterious variability in human populations

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Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease†

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Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort

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The demographic and adaptive history of central African hunter-gatherers and farmers

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Variant effect predictions capture some aspects of deep mutational scanning experiments

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Probabilistic Estimation of Identity by Descent Segment Endpoints and Detection of Recent Selection

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Next-generation sequencing for inborn errors of immunity

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Targeted Next Generation Sequencing Identifies Novel Mutations inRP1as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

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Clinical Implications of Human Population Differences in Genome-Wide Rates of Functional Genotypes

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Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm

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The Temporal Dynamics of Background Selection in Nonequilibrium Populations

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Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing Derived Variants for Clinical Diagnosis

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General Triallelic Frequency Spectrum Under Demographic Models with Variable Population Size

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Inference of Super-exponential Human Population Growth via Efficient Computation of the Site Frequency Spectrum for Generalized Models

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Targeted Capture Sequencing in Whitebark Pine Reveals Range-Wide Demographic and Adaptive Patterns Despite Challenges of a Large, Repetitive Genome

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Explosive genetic evidence for explosive human population growth

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A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets

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PEMapper and PECaller provide a simplified approach to whole-genome sequencing

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Protein–Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations

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The genetic architecture and population genomic signatures of glyphosate resistance in Amaranthus tuberculatus

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Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes

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Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

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