Title | Framework for microRNA variant annotation and prioritization using human population and disease datasets. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | Oak, N, Ghosh, R, Huang, K-L, Wheeler, DA, Ding, L, Plon, SE |
Journal | Hum Mutat |
Volume | 40 |
Issue | 1 |
Pagination | 73-89 |
Date Published | 2019 Jan |
ISSN | 1098-1004 |
Keywords | Animals, Base Sequence, Conserved Sequence, Databases, Genetic, Disease, Exome Sequencing, Genetics, Population, Genome, Human, Germ-Line Mutation, Humans, MicroRNAs, Molecular Sequence Annotation, Neoplasms, Phylogeny, Vertebrates |
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 |
DOI | 10.1002/humu.23668 |
Alternate Journal | Hum Mutat |
PubMed ID | 30302893 |
PubMed Central ID | PMC6400659 |
Grant List | 5U01HG007436-03 / HG / NHGRI NIH HHS / United States R01 CA138836 / CA / NCI NIH HHS / United States R01-CA138836 / CA / NCI NIH HHS / United States U41HG009649-01 / HG / NHGRI NIH HHS / United States U41 HG009649 / HG / NHGRI NIH HHS / United States U01 HG007436 / HG / NHGRI NIH HHS / United States RP10189 / / Cancer Prevention and Research Institute of Texas / International |
Framework for microRNA variant annotation and prioritization using human population and disease datasets.
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