Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression

被引：44

作者：

Li, Mulin Jun ^{[1
]}

Yan, Bin ^{[2
]}

Sham, Pak Chung ^{[1
]}

Wang, Junwen ^{[1
]}

机构：

[1] Univ Hong Kong, Hong Kong, Hong Kong, Peoples R China

[2] Hong Kong Baptist Univ, Hong Kong, Hong Kong, Peoples R China

来源：

BRIEFINGS IN BIOINFORMATICS | 2015年 / 16卷 / 03期

关键词：

regulatory variant; genetic mapping; transcriptional gene regulation; chromatin state; functional prediction; function validation; EPISTATIC INTERACTION DETECTION; QUANTITATIVE-TRAIT LOCI; LONG-RANGE INTERACTION; WIDE ASSOCIATION; CHROMATIN-STRUCTURE; CHIP-SEQ; HISTONE MODIFICATIONS; MISSING HERITABILITY; SYNONYMOUS MUTATIONS; DISEASE ASSOCIATIONS;

D O I：

10.1093/bib/bbu018

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：393 / 412

页数：20

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