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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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: 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
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Opinion
Acesso em linha: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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