Whole-genome sequence variation, population structure and demographic history of the Dutch population

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

(2013) Tobias Marschall et al.   BIOINFORMATICS

Inference of historical migration rates via haplotype sharing

(2013) P. F. Palamara et al.   BIOINFORMATICS

Population structure, migration and diversifying selection in the Netherlands

(2013) Abdel Abdellaoui et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genome of the Netherlands: design, and project goals

(2013) Dorret I Boomsma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimating and interpreting FST: The impact of rare variants

(2013) G. Bhatia et al.   GENOME RESEARCH

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

(2013) Christopher A. Cassa et al.   HUMAN MUTATION

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

(2013) Jacob Gratten et al.   NATURE GENETICS

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Bringing genome-wide association findings into clinical use

(2013) Teri A. Manolio   NATURE REVIEWS GENETICS

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Imputing Amino Acid Polymorphisms in Human Leukocyte Antigens

(2013) Xiaoming Jia et al.   PLoS One

The Geography of Recent Genetic Ancestry across Europe

(2013) Peter Ralph et al.   PLOS BIOLOGY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History

(2012) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

(2012) Lukas Habegger et al.   BIOINFORMATICS

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold

(2012) Androniki Menelaou et al.   BIOINFORMATICS

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Structural haplotypes and recent evolution of the human 17q21.31 region

(2012) Linda M Boettger et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

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

(2012) J. A. Tennessen et al.   SCIENCE

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

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

A Fast, Powerful Method for Detecting Identity by Descent

(2011) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

(2011) M. H. B. Huisman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genotype Imputation with Thousands of Genomes

(2011) Bryan Howie et al.   G3-Genes Genomes Genetics

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

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

(2010) A. McKenna et al.   GENOME RESEARCH

Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows

(2010) LAURENT EXCOFFIER et al.   Molecular Ecology Resources

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

FACADE : a fast and sensitive algorithm for the segmentation and calling of high resolution array CGH data

(2010) Bradley P. Coe et al.   NUCLEIC ACIDS RESEARCH

Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

De novo assembly of human genomes with massively parallel short read sequencing

(2009) R. Li et al.   GENOME RESEARCH

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Correlation between Genetic and Geographic Structure in Europe

(2008) Oscar Lao et al.   CURRENT BIOLOGY

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Genes mirror geography within Europe

(2008) John Novembre et al.   NATURE

Interpreting principal component analyses of spatial population genetic variation

(2008) John Novembre et al.   NATURE GENETICS