Article
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
American journal of human genetics - 11 Feb 2011
Jordan Daniel M, Kiezun Adam, Baxter Samantha M, Agarwala Vineeta, Green Robert C, Murray Michael F, Pugh Trevor, Lebo Matthew S, Rehm Heidi L, Funke Birgit H, Sunyaev Shamil R
Abstract excerpt
Assessing the significance of novel genetic variants revealed by DNA sequencing is a major challenge to the integration of genomic techniques with medical practice. Many variants remain difficult to classify by traditional genetic methods. Computational methods have been developed that could contribute to classifying these variants, but they have not been properly validated and are generally not considered mature...
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