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

Tópicos

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Resumo

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.

Resumo Limpo

understand genet basi human traitsdiseas under mechan traitsdiseas affect genet variat critic public health current genomewid function genom data uncov larg number function element noncod region human genom provid new opportun studi regulatori variant rvs rvs play import role transcript factor bind chromatin state epigenet modif systemat review array method current use map rvs well comput approach annot interpret regulatori effect emphasi regulatori singlenucleotid polymorph also briefli introduc experiment method valid function rvs

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