Dataset Information


Whole-genome definitive haplotypes of SNPs and CNVs determined by genotyping duplicated haploid genomes

ABSTRACT: Copy number variations (CNVs) constitute the largest portion of the human genome variation. We determined a genome-wide high resolution SNP/CNV haplotype structure of Asians, by analyzing a collection of complete hydatidiform moles (CHMs) of Japanese, using high-density DNA arrays. CHMs are tissues carrying duplicated haploid genomes derived from single sperms, and are suitable material for the detection of CNVs, because they are expected to reveal greater signal to noise ratio in hybridization experiments. Also, the absence of heterozygosity ensures straightforward CNV interpretation without being bothered by overlapping CNV segments. We genotyped 100 CHM genomes using Affymetrix SNP 6.0 and Illumina 1M-duo, created a definitive haplotype map including 1.7 million SNPs and 2339 CNV region (CNVR) that is presented as D-HaploDB Phase 4.1.

ORGANISM(S): Homo sapiens

PROVIDER: GSE54948 | GEO | 2014/02/13



Similar Datasets

2014-02-13 | E-GEOD-54948 | biostudies-arrayexpress
2010-05-17 | E-GEOD-18663 | biostudies-arrayexpress
2010-05-17 | GSE18663 | GEO
2010-05-17 | GSE18642 | GEO
2010-04-05 | E-GEOD-12713 | biostudies-arrayexpress
2009-05-12 | GSE12713 | GEO
2010-05-17 | E-GEOD-18701 | biostudies-arrayexpress
2013-07-13 | E-GEOD-48835 | biostudies-arrayexpress
2015-05-20 | E-GEOD-58551 | biostudies-arrayexpress
2019-08-31 | GSE117672 | GEO