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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genome Med
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2019
Gaiak:
Opinion
Sarrera elektronikoa: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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