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

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

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

(2016) Michael A. Eberle et al.   GENOME RESEARCH

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

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

(2016) G David Poznik et al.   NATURE GENETICS

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

New observations on maternal age effect on germline de novo mutations

(2016) Wendy S. W. Wong et al.   Nature Communications

KMC 2: fast and resource-frugal k-mer counting

(2015) Sebastian Deorowicz et al.   BIOINFORMATICS

Characteristics of de novo structural changes in the human genome

(2015) Wigard P. Kloosterman et al.   GENOME RESEARCH

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

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

De novo assembly of a haplotype-resolved human genome

(2015) Hongzhi Cao et al.   NATURE BIOTECHNOLOGY

The Y-chromosome point mutation rate in humans

(2015) Agnar Helgason et al.   NATURE GENETICS

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

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

The Dfam database of repetitive DNA families

(2015) Robert Hubley et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Søren Besenbacher et al.   Nature Communications

Discovery, genotyping and characterization of structural variation and novel sequence at single nucleotide resolution from de novo genome assemblies on a population scale

(2015) Siyang Liu et al.   GigaScience

Single haplotype assembly of the human genome from a hydatidiform mole

(2014) Karyn Meltz Steinberg et al.   GENOME RESEARCH

Reconstructing complex regions of genomes using long-read sequencing technology

(2014) J. Huddleston et al.   GENOME RESEARCH

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

(2014) Laurent C Francioli et al.   NATURE GENETICS

Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes

(2014) Margret R. Hoehe et al.   Nature Communications

Seeing the Wood for the Trees: A Minimal Reference Phylogeny for the Human Y Chromosome

(2013) Mannis van Oven et al.   HUMAN MUTATION

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

(2013) K. Katoh et al.   MOLECULAR BIOLOGY AND EVOLUTION

MEGA6: Molecular Evolutionary Genetics Analysis Version 6.0

(2013) Koichiro Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

(2013) A D Børglum et al.   MOLECULAR PSYCHIATRY

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

(2013) Stephan Ripke et al.   NATURE GENETICS

Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project

(2012) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parameters for accurate genome alignment

(2012) Martin C Frith et al.   BMC BIOINFORMATICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Imaging and Cognitive Genetics: The Norwegian Cognitive NeuroGenetics Sample

(2012) Thomas Espeseth et al.   Twin Research and Human Genetics

SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler

(2012) Ruibang Luo et al.   GigaScience

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

FLASH: fast length adjustment of short reads to improve genome assemblies

(2011) T. Magoc et al.   BIOINFORMATICS

Adaptive seeds tame genomic sequence comparison

(2011) S. M. Kielbasa et al.   GENOME RESEARCH

Efficient de novo assembly of large genomes using compressed data structures

(2011) J. T. Simpson et al.   GENOME RESEARCH

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome-Wide Population-Based Association Study of Extremely Overweight Young Adults – The GOYA Study

(2011) Lavinia Paternoster et al.   PLoS One

Linkage between serum cholinesterase 2 (CHE2) and γ-crystallin gene cluster (CRYG): assignment to chromosome 2

(2010) H. Eiberg et al.   CLINICAL GENETICS

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

(2010) S. Gnerre et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

A comprehensive evaluation of SNP genotype imputation

(2008) Michael Nothnagel et al.   HUMAN GENETICS