Mapping and making sense of noncoding mutations in the genome

Jiekun Yang, Mazhar Adli*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations

Abstract

Whole-genome sequencing efforts of tumors and normal tissues have identified numerous genetic mutations, both somatic and germline, that do not overlap with coding genomic sequences. Attributing a functional role to these noncoding mutations and characterizing them using experimental methods has been more challenging compared with coding mutations. In this review, we provide a brief introduction to the world of noncoding mutations. We discuss recent progress in identifying noncoding mutations and the analytic and experimental approaches utilized to interpret their functional roles. We also highlight the potential mechanisms by which a noncoding mutation may exert its effect and discuss future challenges and opportunities.

Original languageEnglish (US)
Pages (from-to)4309-4314
Number of pages6
JournalCancer Research
Volume79
Issue number17
DOIs
StatePublished - Sep 1 2019

Funding

This research is supported by National Science Foundation award (MCB 1715183 to M. Adli), University of Virginia Cancer Center Team Science Award (to M. Adli), and Trainee Award (to J. Yang).

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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