Nature Communications (Oct 2016)
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- Jayne Y. Hehir-Kwa,
- Tobias Marschall,
- Wigard P. Kloosterman,
- Laurent C. Francioli,
- Jasmijn A. Baaijens,
- Louis J. Dijkstra,
- Abdel Abdellaoui,
- Vyacheslav Koval,
- Djie Tjwan Thung,
- René Wardenaar,
- Ivo Renkens,
- Bradley P. Coe,
- Patrick Deelen,
- Joep de Ligt,
- Eric-Wubbo Lameijer,
- Freerk van Dijk,
- Fereydoun Hormozdiari,
- The Genome of the Netherlands Consortium,
- André G. Uitterlinden,
- Cornelia M. van Duijn,
- Evan E. Eichler,
- Paul I. W. de Bakker,
- Morris A. Swertz,
- Cisca Wijmenga,
- Gert-Jan B. van Ommen,
- P. Eline Slagboom,
- Dorret I. Boomsma,
- Alexander Schönhuth,
- Kai Ye,
- Victor Guryev
Affiliations
- Jayne Y. Hehir-Kwa
- Department of Human Genetics, Donders Institute, Radboud University Medical Center
- Tobias Marschall
- Center for Bioinformatics, Saarland University
- Wigard P. Kloosterman
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Laurent C. Francioli
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Jasmijn A. Baaijens
- Life Sciences Group, Centrum Wiskunde & Informatica
- Louis J. Dijkstra
- Life Sciences Group, Centrum Wiskunde & Informatica
- Abdel Abdellaoui
- Department of Biological Psychology, Vrije Universiteit Amsterdam
- Vyacheslav Koval
- Department of Internal Medicine, Erasmus Medical Center
- Djie Tjwan Thung
- Department of Human Genetics, Donders Institute, Radboud University Medical Center
- René Wardenaar
- European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen
- Ivo Renkens
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Bradley P. Coe
- Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington
- Patrick Deelen
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Joep de Ligt
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Eric-Wubbo Lameijer
- Department of Human Genetics, Leiden University Medical Center
- Freerk van Dijk
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Fereydoun Hormozdiari
- Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington
- The Genome of the Netherlands Consortium
- André G. Uitterlinden
- Department of Internal Medicine, Erasmus Medical Center
- Cornelia M. van Duijn
- Department of Epidemiology, Erasmus Medical Center
- Evan E. Eichler
- Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington
- Paul I. W. de Bakker
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Morris A. Swertz
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Cisca Wijmenga
- Department of Genetics, University of Groningen, University Medical Center Groningen
- Gert-Jan B. van Ommen
- Department of Human Genetics, Leiden University Medical Center
- P. Eline Slagboom
- Department of Medical Statistics and Bioinformatics, Leiden University Medical Center
- Dorret I. Boomsma
- Department of Biological Psychology, Vrije Universiteit Amsterdam
- Alexander Schönhuth
- Life Sciences Group, Centrum Wiskunde & Informatica
- Kai Ye
- The Genome Institute, Washington University
- Victor Guryev
- European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen
- DOI
- https://doi.org/10.1038/ncomms12989
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 10
Abstract
Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its utility for studying heritable traits.
