Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent

(2015) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Height-reducing variants and selection for short stature in Sardinia

(2015) Magdalena Zoledziewska et al.   NATURE GENETICS

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

(2015) Alexander H Li et al.   NATURE GENETICS

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

(2015) Carlo Sidore et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Gene essentiality and synthetic lethality in haploid human cells

(2015) V. A. Blomen et al.   SCIENCE

Using population isolates in genetic association studies

(2014) K. Hatzikotoulas et al.   Briefings in Functional Genomics

Genome Scans for Detecting Footprints of Local Adaptation Using a Bayesian Factor Model

(2014) Nicolas Duforet-Frebourg et al.   MOLECULAR BIOLOGY AND EVOLUTION

Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans

(2014) Timothy D. O’Connor et al.   MOLECULAR BIOLOGY AND EVOLUTION

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Inferring human population size and separation history from multiple genome sequences

(2014) Stephan Schiffels et al.   NATURE GENETICS

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

(2014) Kalliope Panoutsopoulou et al.   Nature Communications

4P: fast computing of population genetics statistics from large DNA polymorphism panels

(2014) Andrea Benazzo et al.   Ecology and Evolution

Using genetically isolated populations to understand the genomic basis of disease

(2014) Eleftheria Zeggini   Genome Medicine

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Demography and the Age of Rare Variants

(2014) Iain Mathieson et al.   PLoS Genetics

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

(2014) Vincenza Colonna et al.   GENOME BIOLOGY

Detecting Identity by Descent and Estimating Genotype Error Rates in Sequence Data

(2013) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

Small effective population size and genetic homogeneity in the Val Borbera isolate

(2012) Vincenza Colonna et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

(2012) Tõnu Esko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data

(2012) Joseph K. Pickrell et al.   PLoS Genetics

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Reconstructing Indian population history

(2009) David Reich et al.   NATURE

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

(2008) Veronique Vitart et al.   NATURE GENETICS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE