Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.

TitleCopy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.
Publication TypeJournal Article
Year of Publication2016
AuthorsYuan, B, Liu, P, Rogers, J, Lupski, JR
JournalGenom Data
Volume8
Pagination106-9
Date Published2016 Jun
Abstract

Array comparative genomic hybridization (aCGH) has been widely used to detect copy number variants (CNVs) in both research and clinical settings. A customizable aCGH platform may greatly facilitate copy number analyses in genomic regions with higher-order complexity, such as low-copy repeats (LCRs). Here we present the aCGH analyses focusing on the 45 kb LCRs [1] at the NPHP1 region with diverse copy numbers in humans. Also, the interspecies aCGH analysis comparing human and nonhuman primates revealed dynamic copy number transitions of the human 45 kb LCR orthologues during primate evolution and therefore shed light on the origin of complexity at this locus. The original aCGH data are available at GEO under GSE73962.

DOI10.1016/j.gdata.2016.04.008
Alternate JournalGenom Data
PubMed ID27222811
PubMed Central IDPMC4872932
Grant ListR01 NS058529 / NS / NINDS NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States