Article
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Nature communications - 6 Oct 2016
Hehir-Kwa Jayne Y, Marschall Tobias, Kloosterman Wigard P, Francioli Laurent C, Baaijens Jasmijn A, Dijkstra Louis J, Abdellaoui Abdel, Koval Vyacheslav, Thung Djie Tjwan, Wardenaar René, Renkens Ivo, Coe Bradley P, Deelen Patrick, de Ligt Joep, Lameijer Eric-Wubbo, van Dijk Freerk, Hormozdiari Fereydoun, Uitterlinden André G, van Duijn Cornelia M, Eichler Evan E, de Bakker Paul I W, Swertz Morris A, Wijmenga Cisca, van Ommen Gert-Jan B, Slagboom P Eline, Boomsma Dorret I, Schönhuth Alexander, Ye Kai, Guryev Victor
Abstract excerpt
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a...
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