High resolution measurement of DUF1220 domain copy number from whole genome sequence data

Abstract Background DUF1220 protein domains found primarily in Neuroblastoma BreakPoint Family (NBPF) genes show the greatest human lineage-specific increase in copy number of any coding region in the genome. There are 302 haploid copies of DUF1220 in hg38 (~160 of which are human-specific) and the...

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Bibliographic Details
Main Authors: David P. Astling, Ilea E. Heft, Kenneth L. Jones, James M. Sikela
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Genomics
Subjects:
CNV
Online Access:http://link.springer.com/article/10.1186/s12864-017-3976-z