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

Abstract:

: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.

journal_name

Brief Bioinform

authors

Li MJ,Yan B,Sham PC,Wang J

doi

10.1093/bib/bbu018

subject

Has Abstract

pub_date

2015-05-01 00:00:00

pages

393-412

issue

3

eissn

1467-5463

issn

1477-4054

pii

bbu018

journal_volume

16

pub_type

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