Article
Comparison of predicted and actual consequences of missense mutations.
Proceedings of the National Academy of Sciences of the United States of America - 15 Sept 2015
Miosge Lisa A, Field Matthew A, Sontani Yovina, Cho Vicky, Johnson Simon, Palkova Anna, Balakishnan Bhavani, Liang Rong, Zhang Yafei, Lyon Stephen, Beutler Bruce, Whittle Belinda, Bertram Edward M, Enders Anselm, Goodnow Christopher C, Andrews T Daniel
Abstract excerpt
Each person's genome sequence has thousands of missense variants. Practical interpretation of their functional significance must rely on computational inferences in the absence of exhaustive experimental measurements. Here we analyzed the efficacy of these inferences in 33 de novo missense mutations revealed by sequencing in first-generation progeny of N-ethyl-N-nitrosourea-treated mice, involving 23 essential...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.