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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

✍ Scribed by Daniel M. Jordan; Adam Kiezun; Samantha M. Baxter; Vineeta Agarwala; Robert C. Green; Michael F. Murray; Trevor Pugh; Matthew S. Lebo; Heidi L. Rehm; Birgit H. Funke; Shamil R. Sunyaev

Book ID
113422989
Publisher
American Society of Human Genetics
Year
2011
Tongue
English
Weight
509 KB
Volume
88
Category
Article
ISSN
0002-9297

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The functional consequences of missense variants are often difficult to predict. This becomes especially relevant when DNA sequence changes are used to determine a diagnosis or prognosis. To analyze the consequences of 12 missense variants in patients with mild forms of ataxia-telangiectasia (A-T),