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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Библиографические подробности
Опубликовано в: :Genome Med
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
Предметы:
Opinion
Online-ссылка: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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