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Ena-DATASET-NIG-07-03-2016-14:49:59:413-12 - samples

ABSTRACT: We performed target re-sequencing for 1.29 Mb interval of chromosome 9 (chr9:21299764–22590271, hg19). NimbleGen SeqCap EZ choice system was used as a target enrichment method (Roche Diagnostics). A DNA probe set complementary to the target region was designed by NimbleDesign. The libraries were sequenced on the Illumina MiSeq platform with 2×150-bp paired-end module (Illumina). Fastq files for 48 Japanese patients with endometriosis are deposited.

PROVIDER: EGAD00001001942 | EGA |

REPOSITORIES: EGA

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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]

PMID: 27055116

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