ArticleHuman mutation2019
Framework for microRNA variant annotation and prioritization using human population and disease datasets.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Construction and Analysis of miRNA Regulatory Networks.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Genomic variation of human microRNAs and its association with functional features.Cellular and molecular life sciences : CMLS · 2025Article
- iModEst: disentangling -omic impacts on gene expression variation across genes and tissues.NAR genomics and bioinformatics · 2025Article
- In silico prioritisation of microRNA-associated common variants in multiple sclerosis.Human genomics · 2023Article
- MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.Human mutation · 2022Article
- MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.Genes · 2022Article
- A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.Nucleic acids research · 2021Article
- MicroRNAs Regulating Autophagy in Neurodegeneration.Advances in experimental medicine and biology · 2021Article
- Pan-cancer analysis of somatic mutations in miRNA genes.EBioMedicine · 2020Article
- miRNet 2.0: network-based visual analytics for miRNA functional analysis and systems biology.Nucleic acids research · 2020Article
- Human Brain Shows Recurrent Non-Canonical MicroRNA Editing Events Enriched for Seed Sequence with Possible Functional Consequence.Non-coding RNA · 2020Article
- MiRNA and LncRNA as Potential Biomarkers in Triple-Negative Breast Cancer: A Review.Frontiers in oncology · 2020Review
- Circulating miRNAs as Diagnostic and Prognostic Biomarkers in Common Solid Tumors: Focus on Lung, Breast, Prostate Cancers, and Osteosarcoma.Journal of clinical medicine · 2019Review
- Somatic Mutations in miRNA Genes in Lung Cancer-Potential Functional Consequences of Non-Coding Sequence Variants.Cancers · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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 < 0.001). Conservation analysis across 100 vertebrates identified 765 highly conserved miRNAs that also have limited genetic variation in gnomAD. We applied ADmiRE to the TCGA PanCancerAtlas WES dataset containing over 10,000 individuals across 33 adult cancers and annotated 1,267 germline (rare in gnomAD) and 1,492 somatic miRNA variants. Several miRNA families with deregulated gene expression in cancer have low levels of both somatic and germline variants, e.g., let-7 and miR-10. In addition to known somatic miR-142 mutations in hematologic cancers, we describe novel somatic miR-21 mutations in esophageal cancers impacting downstream miRNA targets. Through the development of ADmiRE, we present a framework for annotation and prioritization of miRNA variation in disease datasets.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.