A definitive haplotype map of structural variations determined by microarray analysis of duplicated haploid genomes

Tahira, Tomoko
Yahara, Koji
Kukita, Yoji
Higasa, Koichiro
Kato, Kiyoko
Wake, Norio
Hayashi, Kenshi

Open link

Publication date

December 2014

DOI

10.1016/j.gdata.2014.04.006

Publisher

The Authors. Published by Elsevier Inc.

Abstract

AbstractComplete hydatidiform moles (CHMs) are tissues carrying duplicated haploid genomes derived from single sperms, and detecting copy number variations (CNVs) in CHMs is assumed to be sensitive and straightforward methods. We genotyped 108 CHM genomes using Affymetrix SNP 6.0 (GEO#: GSE18642) and Illumina 1M-duo (GEO#: GSE54948). After quality control, we obtained 84 definitive haplotype consisting of 1.7million SNPs and 2339 CNV regions. The results are presented in the database of our web site (http://orca.gen.kyushu-u.ac.jp/cgi-bin/gbrowse/humanBuild37D4_1/)