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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Bibliographic Details

Published in:	American journal of human genetics Vol. 101; no. 3; p. 315
Main Authors:	Starita, Lea M, Ahituv, Nadav, Dunham, Maitreya J, Kitzman, Jacob O, Roth, Frederick P, Seelig, Georg, Shendure, Jay, Fowler, Douglas M
Format:	Journal Article
Language:	English
Published:	United States 07.09.2017
Subjects:	Computational Biology - methods Disease - genetics Genetic Variation Genome, Human Humans
ISSN:	1537-6605, 1537-6605
Online Access:	Get more information
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