Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe, Tabea V; Khan, Mubeen; Roosing, Susanne; Cremers, Frans P M; 't Hoen, Peter A C

Riepe, Tabea V; Khan, Mubeen; Roosing, Susanne; Cremers, Frans P M; 't Hoen, Peter A C.

Afiliação

Riepe TV; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Khan M; Department of Human Genetics and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Roosing S; Department of Human Genetics and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Cremers FPM; Department of Human Genetics and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
't Hoen PAC; Department of Human Genetics and Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Hum Mutat ; 42(7): 799-810, 2021 07.

Article em En | MEDLINE | ID: mdl-33942434

Assuntos

Aprendizado Profundo; Transportadores de Cassetes de Ligação de ATP/genética; Benchmarking; Humanos; Íntrons/genética; Mutação; Sítios de Splice de RNA/genética; Splicing de RNA

Palavras-chave

ABCA4; MYBPC3; RNA splicing; deep learning; splice prediction tools; variant effect prediction

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aprendizado Profundo Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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