期刊
HUMAN MOLECULAR GENETICS
卷 19, 期 -, 页码 R204-R209出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddq404
关键词
-
资金
- NIH/NHGRI ENCODE Consortium [U54 HG004563-03]
Next-generation sequencing-based assays to detect gene regulatory elements are enabling the analysis of individual-to-individual and allele-specific variation of chromatin status and transcription factor binding in humans. Recently, a number of studies have explored this area, using lymphoblastoid cell lines. Around 10% of chromatin sites show either individual-level differences or allele-specific behavior. Future studies are likely to be limited by cell line accessibility, meaning that white-bloodcell-based studies are likely to continue to be the main source of samples. A detailed understanding of the relationship between normal genetic variation and chromatin variation can shed light on how polymorphisms in non-coding regions in the human genome might underlie phenotypic variation and disease.
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