Principles and methods of in-silico prioritization of non-coding regulatory variants

Hum Genet. 2018 Jan;137(1):15-30. doi: 10.1007/s00439-017-1861-0. Epub 2017 Dec 29.


Over a decade of genome-wide association, studies have made great strides toward the detection of genes and genetic mechanisms underlying complex traits. However, the majority of associated loci reside in non-coding regions that are functionally uncharacterized in general. Now, the availability of large-scale tissue and cell type-specific transcriptome and epigenome data enables us to elucidate how non-coding genetic variants can affect gene expressions and are associated with phenotypic changes. Here, we provide an overview of this emerging field in human genomics, summarizing available data resources and state-of-the-art analytic methods to facilitate in-silico prioritization of non-coding regulatory mutations. We also highlight the limitations of current approaches and discuss the direction of much-needed future research.

Publication types

  • Review

MeSH terms

  • Gene Regulatory Networks*
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Variation*
  • Genome, Human*
  • Genomics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation