作者
Derek M Bickhart, Yali Hou, Steven G Schroeder, Can Alkan, Maria Francesca Cardone, Lakshmi K Matukumalli, Jiuzhou Song, Robert D Schnabel, Mario Ventura, Jeremy F Taylor, Jose Fernando Garcia, Curtis P Van Tassell, Tad S Sonstegard, Evan E Eichler, George E Liu
发表日期
2012/4/1
期刊
Genome research
卷号
22
期号
4
页码范围
778-790
出版商
Cold Spring Harbor Lab
简介
Copy number variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in or near segmental duplication regions are often intractable. Using a read depth approach based on next-generation sequencing, we examined genome-wide copy number differences among five taurine (three Angus, one Holstein, and one Hereford) and one indicine (Nelore) cattle. Within mapped chromosomal sequence, we identified 1265 CNV regions comprising ∼55.6-Mbp sequence—476 of which (∼38%) have not previously been reported. We validated this sequence-based CNV call set with array comparative genomic hybridization (aCGH), quantitative PCR (qPCR), and fluorescent in situ hybridization (FISH), achieving a validation rate of 82% and a false positive rate of 8%. We further estimated absolute copy numbers for genomic segments and annotated genes in each individual. Surveys of the top 25 most …
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