SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-read sequencing and de novo assembly of a Chinese genome

(2016) Lingling Shi et al.   Nature Communications

Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

(2015) Luca Pagani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Genome-wide patterns of selection in 230 ancient Eurasians

(2015) Iain Mathieson et al.   NATURE

Population genomics of Bronze Age Eurasia

(2015) Morten E. Allentoft et al.   NATURE

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

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Assembly and diploid architecture of an individual human genome via single-molecule technologies

(2015) Matthew Pendleton et al.   NATURE METHODS

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

Fast Principal Component Analysis of Large-Scale Genome-Wide Data

(2014) Gad Abraham et al.   PLoS One

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

(2013) Lai-Ping Wong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome of the Netherlands: design, and project goals

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

Assessing the Impact of Population Stratification on Association Studies of Rare Variation

(2013) Yunxuan Jiang et al.   HUMAN HEREDITY

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

(2012)   NATURE

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

The Swedish Twin Registry: Establishment of a Biobank and Other Recent Developments

(2012) Patrik K. E. Magnusson et al.   Twin Research and Human Genetics

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

(2011) Ghazal Zaboli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Genetic Structure of the Swedish Population

(2011) Keith Humphreys et al.   PLoS One

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

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

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

(2008) Åsa Johansson et al.   HUMAN MOLECULAR GENETICS