Exploring the function of genetic variants in the non-coding genomic regions

Approaches for identifying human regulatory variants affecting gene expression

Mulin Jun Li, Bin Yan, Pak Chung Sham, Junwen Wang

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 singlenucleotide polymorphism.We also briefly introduce experimental methods to validate these functional RVs.

Original languageEnglish (US)
Article numberbbu018
Pages (from-to)393-412
Number of pages20
JournalBriefings in Bioinformatics
Volume16
Issue number3
DOIs
StatePublished - Aug 2 2014
Externally publishedYes

Fingerprint

Gene expression
Genes
Gene Expression
Transcription factors
Medical Genetics
Public health
Human Genome
Genomics
Polymorphism
Epigenomics
Chromatin
Transcription Factors
Public Health
Genome

Keywords

  • Chromatin state
  • Function validation
  • Functional prediction
  • Genetic mapping
  • Regulatory variant
  • Transcriptional gene regulation

ASJC Scopus subject areas

  • Molecular Biology
  • Information Systems

Cite this

Exploring the function of genetic variants in the non-coding genomic regions : Approaches for identifying human regulatory variants affecting gene expression. / Li, Mulin Jun; Yan, Bin; Sham, Pak Chung; Wang, Junwen.

In: Briefings in Bioinformatics, Vol. 16, No. 3, bbu018, 02.08.2014, p. 393-412.

Research output: Contribution to journalArticle

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