Assembly of a pan-genome from deep sequencing of 910 humans of African descent

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

(2017) Lasse Maretty et al.   NATURE

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

(2017) Birte Kehr et al.   NATURE GENETICS

Centrifuge: rapid and sensitive classification of metagenomic sequences

(2016) Daehwan Kim et al.   GENOME RESEARCH

Discovery and genotyping of structural variation from long-read haploid genome sequence data

(2016) John Huddleston et al.   GENOME RESEARCH

Genomics is failing on diversity

(2016) Alice B. Popejoy et al.   NATURE

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

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

(2016) Swapan Mallick 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

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

(2016) Rasika Ann Mathias et al.   Nature Communications

An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

(2016) Yun Sung Cho et al.   Nature Communications

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

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

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

(2016) Lingling Shi et al.   Nature Communications

Extensive sequencing of seven human genomes to characterize benchmark reference materials

(2016) Justin M. Zook et al.   Scientific Data

PopIns: population-scale detection of novel sequence insertions

(2015) Birte Kehr et al.   BIOINFORMATICS

Ten years of pan-genome analyses

(2015) George Vernikos et al.   CURRENT OPINION IN MICROBIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Extending reference assembly models

(2015) Deanna M Church et al.   GENOME BIOLOGY

Kraken: ultrafast metagenomic sequence classification using exact alignments

(2014) Derrick E Wood et al.   GENOME BIOLOGY

The MaSuRCA genome assembler

(2013) Aleksey V. Zimin et al.   BIOINFORMATICS

Evolution of Pan-Genomes of Escherichia coli, Shigella spp., and Salmonella enterica

(2013) E. N. Gordienko et al.   JOURNAL OF BACTERIOLOGY

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

E pluribus unum

(2010)   NATURE METHODS

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

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

BLAST+: architecture and applications

(2009) Christiam Camacho et al.   BMC BIOINFORMATICS

Building the sequence map of the human pan-genome

(2009) Ruiqiang Li et al.   NATURE BIOTECHNOLOGY

Next generation disparities in human genomics: concerns and remedies

(2009) Anna C. Need et al.   TRENDS IN GENETICS