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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Bibliografski detalji
Izdano u:Genet Med
Glavni autori: 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
Jezik:Inglês
Izdano: Nature Publishing Group US 2020
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Article
Online pristup: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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