TY - JOUR
T1 - A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events
AU - Kukita, Yoji
AU - Yahara, Koji
AU - Tahira, Tomoko
AU - Higasa, Koichiro
AU - Sonoda, Miki
AU - Yamamoto, Ken
AU - Kato, Kiyoko
AU - Wake, Norio
AU - Hayashi, Kenshi
N1 - Funding Information:
We thank members of the Japan Association of Obstetricians & Gynecologists for their cooperation in collecting mole samples. We also thank Professor Yanagawa (Division of Biostatistics and Infectious Diseases, Kurume University School of Medicine, Kurume, Fukuoka) for help with the statistical evaluation of the haplotype preference of CNVEs. This work was supported by KAKENHI #17019051 (Grant-in-Aid for Scientific Research on Priority Areas “Applied Genomics”), KAKENHI #18710163 (Grant-in-Aid for Young Scientists [B]), and KAKENHI #20681020 (Grant-in-Aid for Young Scientists [A]) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, as well as by a grant from the Osaka Cancer Society.
PY - 2010/7/11
Y1 - 2010/7/11
N2 - The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of SNPs and copy-number variations (CNVs), because all of the genetic variants in a CHM genome are homozygous. Here we report SNP and CNV haplotype structures determined by analysis of 100 CHMs from Japanese subjects via high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps because of inherent structural instability.
AB - The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of SNPs and copy-number variations (CNVs), because all of the genetic variants in a CHM genome are homozygous. Here we report SNP and CNV haplotype structures determined by analysis of 100 CHMs from Japanese subjects via high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps because of inherent structural instability.
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U2 - 10.1016/j.ajhg.2010.05.003
DO - 10.1016/j.ajhg.2010.05.003
M3 - Article
C2 - 20537301
AN - SCOPUS:77953121808
VL - 86
SP - 918
EP - 928
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 6
ER -