Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

PURPOSE: Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene–disease relationships, e.g., distinct consequence...

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Publicado no:Genet Med
Main Authors: Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, Declan P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7790749/
https://ncbi.nlm.nih.gov/pubmed/33046849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00972-3
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