TitleBeyond the coding genome: non-coding mutations and cancer.
Publication TypeJournal Article
Year of Publication2020
AuthorsWalavalkar K, Notani D
JournalFront Biosci (Landmark Ed)
Volume25
Pagination1828-1838
Date Published2020 Jun 01
ISSN1093-4715
Abstract

Latest advancements in genomics involving individuals from different races and geographical locations has led to the identification of thousands of common as well as rare genetic variants and copy number variations (CNVs). These studies have surprisingly revealed that the majority of genetic variation is not present within the coding region but rather in the non-coding region of the genome, which is also termed as "Medical Genome". This short review describes how mutations/variations within; regulatory sequences, architectural proteins and transcriptional regulators give rise to the aberrant gene expression profiles that drives cellular transformations and malignancies.

Alternate JournalFront Biosci (Landmark Ed)
PubMed ID32472759