Human genetic variation database, a reference database of genetic variations in the Japanese population

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

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

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

(2015) Masao Nagasaki et al.   Nature Communications

Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population

(2014) Wenqian Zhang et al.   BMC BIOINFORMATICS

Association of Serum–Free Fatty Acid Level With Reduced Reflection Pressure Wave Magnitude and Central Blood Pressure

(2014) Yasuharu Tabara et al.   HYPERTENSION

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese

(2014) Miwa Shimanuki et al.   Pigment Cell & Melanoma Research

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

(2014) Maiko Narahara et al.   PLoS One

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

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

Simultaneous Purifying Selection on the Ancestral MC1R Allele and Positive Selection on the Melanoma-Risk Allele V60L in South Europeans

(2013) Conrado Martínez-Cadenas et al.   MOLECULAR BIOLOGY AND EVOLUTION

Using population admixture to help complete maps of the human genome

(2013) Giulio Genovese et al.   NATURE GENETICS

Comparison of Sequencing Platforms for Single Nucleotide Variant Calls in a Human Sample

(2013) Aakrosh Ratan et al.   PLoS One

Genetic Architecture of Skin and Eye Color in an African-European Admixed Population

(2013) Sandra Beleza et al.   PLoS Genetics

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

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

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

(2011) Frederick E. Dewey et al.   PLoS Genetics

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

A standard variation file format for human genome sequences

(2010) Martin G Reese et al.   GENOME BIOLOGY

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols