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

HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data

(2015) Naoki Nariai et al.   BMC GENOMICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

An efficient quantitation method of next-generation sequencing libraries by using MiSeq sequencer

(2014) Fumiki Katsuoka et al.   ANALYTICAL BIOCHEMISTRY

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing

(2014) Yukuto Sato et al.   BMC GENOMICS

Donor–recipient allele-level HLA matching of unrelated cord blood units reveals high degrees of mismatch and alters graft selection

(2014) P B Dahi et al.   BONE MARROW TRANSPLANTATION

Estimating the heritability of colorectal cancer

(2014) Shuo Jiao et al.   HUMAN MOLECULAR GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Sequencing depth and coverage: key considerations in genomic analyses

(2014) David Sims et al.   NATURE REVIEWS GENETICS

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

(2014) Shai Carmi 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

Deep Whole-Genome Sequencing of 100 Southeast Asian Malays

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

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

(2013) Takahiro Mimori et al.   BMC Systems Biology

A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk

(2013) Meian He et al.   GUT

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Long insert whole genome sequencing for copy number variant and translocation detection

(2013) Winnie S. Liang et al.   NUCLEIC ACIDS RESEARCH

miRBase: annotating high confidence microRNAs using deep sequencing data

(2013) Ana Kozomara et al.   NUCLEIC ACIDS RESEARCH

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

(2013) Armand Valsesia et al.   Frontiers in Genetics

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

(2012) Lisa Feuchtbaum et al.   GENETICS IN MEDICINE

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

(2012) Xiaoling Lin et al.   HUMAN MOLECULAR GENETICS

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

(2012) Wenqing Fu et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2012)   NATURE

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

(2012) Michael M Hoffman et al.   NATURE METHODS

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

The IMGT/HLA database

(2012) James Robinson et al.   NUCLEIC ACIDS RESEARCH

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

(2012) M. R. Nelson et al.   SCIENCE

Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study

(2011) P. Almgren et al.   DIABETOLOGIA

Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses

(2011) M. N. Cabili et al.   GENES & DEVELOPMENT

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

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

Genome-Wide Association Study Identifies HLA-DP as a Susceptibility Gene for Pediatric Asthma in Asian Populations

(2011) Emiko Noguchi et al.   PLoS Genetics

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird et al.   GENOME BIOLOGY

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

The HLA genomic loci map: expression, interaction, diversity and disease

(2009) Takashi Shiina et al.   JOURNAL OF HUMAN GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Ken Chen et al.   NATURE METHODS

Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data

(2009) Ryan N. Gutenkunst et al.   PLoS Genetics

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS