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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Publicat a:Genet Med
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2020
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Article
Accés en línia: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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