Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

Targeted nanopore sequencing with Cas9-guided adapter ligation

(2020) Timothy Gilpatrick et al.   NATURE BIOTECHNOLOGY

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Mapping and characterization of structural variation in 17,795 human genomes

(2020) Haley J. Abel et al.   NATURE

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

(2020) Saedis Saevarsdottir et al.   NATURE

A robust benchmark for detection of germline large deletions and insertions

(2020) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

Characterizing the Major Structural Variant Alleles of the Human Genome

(2019) Peter A. Audano et al.   CELL

Characterizing mutagenic effects of recombination through a sequence-level genetic map

(2019) Bjarni V. Halldorsson et al.   SCIENCE

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

(2019) Wouter De Coster et al.   GENOME RESEARCH

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Human-specific tandem repeat expansion and differential gene expression during primate evolution

(2019) Arvis Sulovari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

(2019) Hannes P. Eggertsson et al.   Nature Communications

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women

(2018) Jan-Willem Balder et al.   CIRCULATION

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

Multi-ethnic genome-wide association study for atrial fibrillation

(2018) Carolina Roselli et al.   NATURE GENETICS

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

(2018) Jonas B. Nielsen et al.   NATURE GENETICS

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence variants associating with urinary biomarkers

(2018) Stefania Benonisdottir et al.   HUMAN MOLECULAR GENETICS

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

Graphtyper enables population-scale genotyping using pangenome graphs

(2017) Hannes P Eggertsson et al.   NATURE GENETICS

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and StrokeCLINICAL PERSPECTIVE

(2017) Shia T. Kent et al.   Circulation-Cardiovascular Genetics

Whole genome characterization of sequence diversity of 15,220 Icelanders

(2017) Hákon Jónsson et al.   Scientific Data

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo 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

VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

(2016) Paul Nioi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epigenetic and genetic components of height regulation

(2016) Stefania Benonisdottir et al.   Nature Communications

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

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

(2015) Suna Onengut-Gumuscu et al.   NATURE GENETICS

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche 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

A complete bacterial genome assembled de novo using only nanopore sequencing data

(2015) Nicholas J Loman et al.   NATURE METHODS

Sequence variants from whole genome sequencing a large group of Icelanders

(2015) Daniel F Gudbjartsson et al.   Scientific Data

Large-scale analysis of tandem repeat variability in the human genome

(2014) Jorge Duitama et al.   NUCLEIC ACIDS RESEARCH

Recombination initiation maps of individual human genomes

(2014) F. Pratto et al.   SCIENCE

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Low-Density Lipoprotein Cholesterol–Lowering Effects of AMG 145, a Monoclonal Antibody to Proprotein Convertase Subtilisin/Kexin Type 9 Serine Protease in Patients With Heterozygous Familial Hypercholesterolemia

(2012) Frederick Raal et al.   CIRCULATION

The landscape of recombination in African Americans

(2011) Anjali G. Hinch et al.   NATURE

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

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

skNAC, a Smyd1-interacting transcription factor, is involved in cardiac development and skeletal muscle growth and regeneration

(2010) C. Y. Park 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

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

(2009) Rafael de Cid et al.   NATURE GENETICS

PCSK9: a convertase that coordinates LDL catabolism

(2008) Jay D. Horton et al.   JOURNAL OF LIPID RESEARCH

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS