Article
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
PLoS genetics - 1 Jan 2013
Campbell Ian M, Rao Mitchell, Arredondo Sean D, Lalani Seema R, Xia Zhilian, Kang Sung-Hae L, Bi Weimin, Breman Amy M, Smith Janice L, Bacino Carlos A, Beaudet Arthur L, Patel Ankita, Cheung Sau Wai, Lupski James R, Stankiewicz Paweł, Ramocki Melissa B, Shaw Chad A
Abstract excerpt
Curation and interpretation of copy number variants identified by genome-wide testing is challenged by the large number of events harbored in each personal genome. Conventional determination of phenotypic relevance relies on patterns of higher frequency in affected individuals versus controls; however, an increasing amount of ascertained variation is rare or private to clans. Consequently, frequency data have...
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