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

@inproceedings{HehirKwa2016AHH,
  title={A high-quality human reference panel reveals the complexity and distribution of genomic structural variants},
  author={Jayne Y. Hehir-Kwa and Tobias Marschall and Wigard P. Kloosterman and Laurent Francioli and Jasmijn A. Baaijens and L. J. Dijkstra and Abdel Abdellaoui and Vyacheslav Koval and D. T. Thung and Ren{\'e} Wardenaar and Ivo J Renkens and Bradley P. Coe and Patrick Deelen and Joep de Ligt and Eric-Wubbo E M W Lameijer and Freerk van Dijk and Fereydoun Hormozdiari and Andr{\'e} G. Uitterlinden and Cornelia M van Duijn and Evan E. Eichler and Paul I W de Bakker and Morris A. Swertz and Cisca Wijmenga and Gert-Jan van Ommen and Pieternella E Slagboom and Dorret I. Boomsma and Alexander Sch{\"o}nhuth and Kai Ye and Victor Guryev},
  booktitle={Nature communications},
  year={2016}
}
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 haplotype-resolved map of 1.9 million genome variants across 9 different variant… CONTINUE READING
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