Article
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.
Nature genetics - 1 Jul 2018
Chen Siwei, Fragoza Robert, Klei Lambertus, Liu Yuan, Wang Jiebiao, Roeder Kathryn, Devlin Bernie, Yu Haiyuan
Abstract excerpt
Identifying disease-associated missense mutations remains a challenge, especially in large-scale sequencing studies. Here we establish an experimentally and computationally integrated approach to investigate the functional impact of missense mutations in the context of the human interactome network and test our approach by analyzing ~2,000 de novo missense mutations found in autism subjects and their unaffected...
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