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

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Finding the missing heritability of complex diseases

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A haplotype map of the human genome

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A second generation human haplotype map of over 3.1 million SNPs

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Evolutionary Rate at the Molecular Level

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Robust relationship inference in genome-wide association studies

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Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

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A Unified Mixed‐Effects Model for Rare‐Variant Association in Sequencing Studies

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Integrative phenomics reveals insight into the structure of phenotypic diversity in budding yeastPreprint

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Essential Role of the Linear Ubiquitin Chain Assembly Complex in Lymphoma Revealed by Rare Germline Polymorphisms

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Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans

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Estimating genotype error rates from high-coverage next-generation sequence dataPreprint

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Single nucleotide variations: Biological impact and theoretical interpretation

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A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

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Exome sequencing and complex disease: practical aspects of rare variant association studies

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Recent ultra-rare inherited variants implicate new autism candidate risk genes

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High-Resolution Mapping of Complex Traits with a Four-Parent Advanced Intercross Yeast Population

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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

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DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

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The Role of Selection in Shaping Diversity of Natural M. tuberculosis Populations

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The distribution of deleterious genetic variation in human populations

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Next-Generation Sequencing StrategiesPreprint

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A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions

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Genetic variation in the human cytochrome P450 supergene family

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Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

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Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

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The continuum of causality in human genetic disorders

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Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments

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Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

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Selection and Adaptation in the Human Genome

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Advancing genetic testing for deafness with genomic technology

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The genetic architecture of gene expression levels in wild baboons

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APOE ε4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba

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Towards precision medicine: advances in computational approaches for the analysis of human variants

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Whole-genome and whole-exome sequencing in neurological diseases

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Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

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Genome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways

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Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations

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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

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An extended set of yeast-based functional assays accurately identifies human disease mutationsPreprint

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Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

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Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks

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A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

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Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering

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LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals

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Visualizing the geography of genetic variants

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Ultrarare variants drive substantial cis heritability of human gene expression

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Identification of cis-suppression of human disease mutations by comparative genomics

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Very Early-onset Inflammatory Bowel Disease

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Negative selection in humans and fruit flies involves synergistic epistasis

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Correcting for Population Structure and Kinship Using the Linear Mixed Model: Theory and Extensions

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Advances in Blood Pressure Genomics

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Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

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Inferring Clonal Composition from Multiple Sections of a Breast Cancer

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Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

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Human genotype–phenotype databases: aims, challenges and opportunities

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Genomic history of the Sardinian population

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The evolutionary paradox and the missing heritability of schizophrenia

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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

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The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives

Simons, Y. B., & Sella, G. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.09.006 · Cited by 107

Genetics of Type 2 Diabetes: Implications from Large-Scale Studies

DeForest, N., & Majithia, A. R. (2022) · Current Diabetes Reports · doi:10.1007/s11892-022-01462-3 · Cited by 112

The Limits of Natural Selection in a Nonequilibrium World

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A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder

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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

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The Effects of Demography and Long-Term Selection on the Accuracy of Genomic Prediction with Sequence Data

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BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomaliesPreprint

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

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Droplet barcoding for massively parallel single-molecule deep sequencing

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Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53

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Accumulation of Deleterious Mutations During Bacterial Range Expansions

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Understanding rare and common diseases in the context of human evolution

Quintana‐Murci, L. (2016) · Genome biology · doi:10.1186/s13059-016-1093-y · Cited by 103

Models of archaic admixture and recent history from two-locus statistics

Ragsdale, A. P., & Gravel, S. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008204 · Cited by 97

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

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Non-coding RNAs in homeostasis, disease and stress responses: an evolutionary perspective

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The Age of Gene Discovery in Very Early Onset Inflammatory Bowel Disease

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On the unfounded enthusiasm for soft selective sweeps II: Examining recent evidence from humans, flies, and viruses

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A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer

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Sampling strategies for frequency spectrum-based population genomic inference

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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

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Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation

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Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

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