期刊
BRIEFINGS IN BIOINFORMATICS
卷 16, 期 3, 页码 393-412出版社
OXFORD UNIV PRESS
DOI: 10.1093/bib/bbu018
关键词
regulatory variant; genetic mapping; transcriptional gene regulation; chromatin state; functional prediction; function validation
资金
- Research Grants Council of Hong Kong [781511M]
- genomic SRT of the University of Hong Kong
- NSFC of China [91229105]
- Science Faculty of Hong Kong Baptist University [FRG1/13-14/008, FRG2/12-13/066]
Understanding the genetic basis of human traits/diseases and the underlying mechanisms of how these traits/diseases are affected by genetic variations is critical for public health. Current genome-wide functional genomics data uncovered a large number of functional elements in the noncoding regions of human genome, providing new opportunities to study regulatory variants (RVs). RVs play important roles in transcription factor bindings, chromatin states and epigenetic modifications. Here, we systematically review an array of methods currently used to map RVs as well as the computational approaches in annotating and interpreting their regulatory effects, with emphasis on regulatory single-nucleotide polymorphism. We also briefly introduce experimental methods to validate these functional RVs.
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