Framework for microRNA variant annotation and prioritization using human population and disease datasets.

TitleFramework for microRNA variant annotation and prioritization using human population and disease datasets.
Publication TypeJournal Article
Year of Publication2018
AuthorsOak, N, Ghosh, R, Huang, K-L, Wheeler, DA, Ding, L, Plon, SE
JournalHum Mutat
Date Published2018 Oct 10
ISSN1098-1004
Abstract

MicroRNA (miRNA) expression is frequently deregulated in human disease, in contrast, disease-associated miRNA mutations are understudied. We developed Annotative Database of miRNA Elements, ADmiRE, which combines multiple existing and new biological annotations to aid prioritization of causal miRNA variation. We annotated 10,206 mature (3,257 within seed region) miRNA variants from multiple large sequencing datasets including gnomAD (15,496 genomes; 123,136 exomes). The pattern of miRNA variation closely resembles protein-coding exonic regions, with no difference between intragenic and intergenic miRNAs (P = 0.56), and high confidence miRNAs demonstrate higher sequence constraint (P 

DOI10.1002/humu.23668
Alternate JournalHum. Mutat.
PubMed ID30302893
Grant ListRP10189 / / Cancer Prevention and Research Institute of Texas /
R01-CA138836 / / National Cancer Institute /
5U01HG007436-03 / / National Human Genome Research Institute /
U41HG009649-01 / / National Human Genome Research Institute /