Homozygous loss-of-function variants in European cosmopolitan and isolate populations

The human testis-specific proteome defined by transcriptomics and antibody-based profiling

(2014) D. Djureinovic et al.   MOLECULAR HUMAN REPRODUCTION

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

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

X chromosome regulation: diverse patterns in development, tissues and disease

(2014) Xinxian Deng et al.   NATURE REVIEWS GENETICS

Reduced selection and accumulation of deleterious mutations in genes exclusively expressed in men

(2014) Moran Gershoni et al.   Nature Communications

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

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

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypoxia enhances lipid uptake in macrophages: Role of the scavenger receptors Lox1, SRA, and CD36

(2013) Margot Crucet et al.   ATHEROSCLEROSIS

A unified approach for allele frequency estimation, SNP detection and association studies based on pooled sequencing data using EM algorithms

(2013) Quan Chen et al.   BMC GENOMICS

Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

(2013) Robert Petryszak et al.   NUCLEIC ACIDS RESEARCH

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

(2013) Ahmed B. Alsalem et al.   PLoS Genetics

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness

(2012) Blair H Smith et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments

(2011) M. Kapushesky et al.   NUCLEIC ACIDS RESEARCH

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

(2010) Liron Dvir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A statistical method for the detection of variants from next-generation resequencing of DNA pools

(2010) V. Bansal   BIOINFORMATICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Loss-of-function variants in the genomes of healthy humans

(2010) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genomic Runs of Homozygosity Record Population History and Consanguinity

(2010) Mirna Kirin et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

Genome-wide Association Study of Biochemical Traits in Korčula Island, Croatia

(2009) Tatijana Zemunik et al.   CROATIAN MEDICAL JOURNAL

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Runs of Homozygosity in European Populations

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

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

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

(2008) Veronique Vitart et al.   NATURE GENETICS