Diversity in non-repetitive human sequences not found in the reference genome

GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture

(2016) Hákon Guðbjartsson et al.   BIOINFORMATICS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

(2016) Anna Helgadottir et al.   NATURE GENETICS

GenBank

(2016) Dennis A. Benson et al.   NUCLEIC ACIDS RESEARCH

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

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

(2016) Jayne Y. Hehir-Kwa et al.   Nature Communications

PopIns: population-scale detection of novel sequence insertions

(2015) Birte Kehr et al.   BIOINFORMATICS

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

(2015) Alexej Abyzov et al.   Nature Communications

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

(2015) Solveig Gretarsdottir et al.   PLoS Genetics

Extending reference assembly models

(2015) Deanna M Church et al.   GENOME BIOLOGY

Sequence variants from whole genome sequencing a large group of Icelanders

(2015) Daniel F Gudbjartsson et al.   Scientific Data

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

(2014) Qiuyin Cai et al.   NATURE GENETICS

An atlas of genetic influences on human blood metabolites

(2014) So-Youn Shin et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Atrial fibrillation: the role of common and rare genetic variants

(2013) Morten S Olesen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Using population admixture to help complete maps of the human genome

(2013) Giulio Genovese et al.   NATURE GENETICS

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

(2012)   LANCET

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

(2012) Alisa K Manning et al.   NATURE GENETICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT

(2012) Chad C. Brown et al.   Pharmacogenetics and Genomics

STELLAR: fast and exact local alignments

(2011) Birte Kehr et al.   BMC BIOINFORMATICS

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

(2010) Cathy E Elks et al.   NATURE GENETICS

Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1

(2010) Francis J McMahon et al.   NATURE GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

(2009) David-Alexandre Trégouët et al.   NATURE GENETICS

Genome-Wide and Candidate Gene Association Study of Cigarette Smoking Behaviors

(2009) Neil Caporaso et al.   PLoS One

SeqAn An efficient, generic C++ library for sequence analysis

(2008) Andreas Döring et al.   BMC BIOINFORMATICS