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 language | English |
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Pages (from-to) | 393-412 |
Number of pages | 20 |
Journal | Briefings in Bioinformatics |
Volume | 16 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2 Aug 2014 |
Scopus Subject Areas
- Information Systems
- Molecular Biology
User-Defined Keywords
- Chromatin state
- Function validation
- Functional prediction
- Genetic mapping
- Regulatory variant
- Transcriptional gene regulation