Variant Interpretation: Functional Assays to the Rescue

Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clini...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Starita, Lea M., Ahituv, Nadav, Dunham, Maitreya J., Kitzman, Jacob O., Roth, Frederick P., Seelig, Georg, Shendure, Jay, Fowler, Douglas M.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
Fag:
Commentary
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5590843/
https://ncbi.nlm.nih.gov/pubmed/28886340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.014
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