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

25 Scopus citations

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

Keywords

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

ASJC Scopus subject areas

  • Information Systems
  • Molecular Biology

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