RADAR: annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins.
Genome Biol
; 21(1): 151, 2020 07 30.
Article
em En
| MEDLINE
| ID: mdl-32727537
ABSTRACT
RNA-binding proteins (RBPs) play key roles in post-transcriptional regulation and disease. Their binding sites cover more of the genome than coding exons; nevertheless, most noncoding variant prioritization methods only focus on transcriptional regulation. Here, we integrate the portfolio of ENCODE-RBP experiments to develop RADAR, a variant-scoring framework. RADAR uses conservation, RNA structure, network centrality, and motifs to provide an overall impact score. Then, it further incorporates tissue-specific inputs to highlight disease-specific variants. Our results demonstrate RADAR can successfully pinpoint variants, both somatic and germline, associated with RBP-function dysregulation, which cannot be found by most current prioritization methods, for example, variants affecting splicing.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Software
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Processamento Pós-Transcricional do RNA
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Proteínas de Ligação a RNA
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Genômica
Tipo de estudo:
Evaluation_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article