Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Variants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against v...

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Detalles Bibliográficos
Publicado en:Genome Med
Autores principales: Gelman, Hannah, Dines, Jennifer N., Berg, Jonathan, Berger, Alice H., Brnich, Sarah, Hisama, Fuki M., James, Richard G., Rubin, Alan F., Shendure, Jay, Shirts, Brian, Fowler, Douglas M., Starita, Lea M.
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Opinion
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6925490/
https://ncbi.nlm.nih.gov/pubmed/31862013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0698-7
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