Searching for variants associated with endometriosis
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ABSTRACT:
PROVIDER: EGAS00001001741 | EGA |
REPOSITORIES: EGA
Publications
Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus.
Nakaoka Hirofumi H Gurumurthy Aishwarya A Hayano Takahide T Ahmadloo Somayeh S Omer Waleed H WH Yoshihara Kosuke K Yamamoto Akihito A Kurose Keisuke K Enomoto Takayuki T Akira Shigeo S Hosomichi Kazuyoshi K Inoue Ituro I
PLoS genetics 20160407 4
Genome-wide association studies (GWASs) have discovered numerous single nucleotide polymorphisms (SNPs) associated with human complex disorders. However, functional characterization of the disease-associated SNPs remains a formidable challenge. Here we explored regulatory mechanism of a SNP on chromosome 9p21 associated with endometriosis by leveraging "allele-specific" functional genomic approaches. By re-sequencing 1.29 Mb of 9p21 region and scrutinizing DNase-seq data from the ENCODE project, ...[more]
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