Article
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Science (New York, N.Y.) - 4 Oct 2013
Khurana Ekta, Fu Yao, Colonna Vincenza, Mu Xinmeng Jasmine, Kang Hyun Min, Lappalainen Tuuli, Sboner Andrea, Lochovsky Lucas, Chen Jieming, Harmanci Arif, Das Jishnu, Abyzov Alexej, Balasubramanian Suganthi, Beal Kathryn, Chakravarty Dimple, Challis Daniel, Chen Yuan, Clarke Declan, Clarke Laura, Cunningham Fiona, Evani Uday S, Flicek Paul, Fragoza Robert, Garrison Erik, Gibbs Richard, Gümüş Zeynep H, Herrero Javier, Kitabayashi Naoki, Kong Yong, Lage Kasper, Liluashvili Vaja, Lipkin Steven M, MacArthur Daniel G, Marth Gabor, Muzny Donna, Pers Tune H, Ritchie Graham R S, Rosenfeld Jeffrey A, Sisu Cristina, Wei Xiaomu, Wilson Michael, Xue Yali, Yu Fuli, Dermitzakis Emmanouil T, Yu Haiyuan, Rubin Mark A, Tyler-Smith Chris, Gerstein Mark
Abstract excerpt
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and noncoding regions, with the former corroborating the latter. We found regions particularly sensitive to mutations...
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