Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as “supporting” level of evidence for pathogenicity or benignity using criteria PP3 and BP4...

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Detalles Bibliográficos
Autores principales: Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748256/
https://www.ncbi.nlm.nih.gov/pubmed/36413997
http://dx.doi.org/10.1016/j.ajhg.2022.10.013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748256/
https://www.ncbi.nlm.nih.gov/pubmed/36413997
http://dx.doi.org/10.1016/j.ajhg.2022.10.013

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