Ontology highlight
ABSTRACT:
SUBMITTER: Chen S
PROVIDER: S-EPMC6314957 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Chen Siwei S Fragoza Robert R Klei Lambertus L Liu Yuan Y Wang Jiebiao J Roeder Kathryn K Devlin Bernie B Yu Haiyuan H
Nature genetics 20180611 7
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 siblings. Interaction-disrupting de novo missense mutations are more common in autism ...[more]