Links

Tools

Export citation

Search in Google Scholar

Mapping copy number variation by population scale genome sequencing

Journal article published in 2011 by Mills Re, Yujun Zhang, Zhengdong D. Zhang, Y. Zhang, Z. D. Zhang, H. Zheng, X. Zheng, Y. Zhou, X. Zheng Bradley, S. Zöllner, M. Zilversmit, Z. Zhang, X. Zhang, Handsaker Re, Yoon Sc and other authors.
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Question mark in circle
Preprint: policy unknown
Upload
Question mark in circle
Postprint: policy unknown
Upload
Question mark in circle
Published version: policy unknown
Upload

Abstract

Genomic structural variants (SVs) are abundant in humans, differing from other variation classes in extent, origin, and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (i.e., copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analyzing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies.