Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

Ekta Khurana, Yao Fu, Vincenza Colonna, Xinmeng Jasmine Mu, Hyun Min Kang, Tuuli Lappalainen, Andrea Sboner, Lucas Lochovsky, Jieming Chen, Arif Harmanci, Jishnu Das, Alexej Abyzov, Suganthi Balasubramanian, Kathryn Beal, Dimple Chakravarty, Daniel Challis, Yuan Chen, Declan Clarke, Laura Clarke, Fiona CunninghamUday S. Evani, Paul Flicek, Robert Fragoza, Erik Garrison, Richard Gibbs, Zeynep H. Gümüş, Javier Herrero, Naoki Kitabayashi, Yong Kong, Kasper Lage, Vaja Liluashvili, Steven M. Lipkin, Daniel G. MacArthur, Gabor Marth, Donna Muzny, Tune Hannes Pers, Graham R. S. Ritchie, Jeffrey A. Rosenfeld, Cristina Sisu, Xiaomu Wei, Michael Wilson, Yali Xue, Fuli Yu, Emmanouil T. Dermitzakis, Haiyuan Yu, Mark A. Rubin, Chris Tyler-Smith, Mark Gerstein

    Research output: Contribution to journalJournal articleResearchpeer-review


    Identifying Important Identifiers Each of us has millions of sequence variations in our genomes. Signatures of purifying or negative selection should help identify which of those variations is functionally important. Khurana et al. (1235587) used sequence polymorphisms from 1092 humans across 14 populations to identify patterns of selection, especially in noncoding regulatory regions. Noncoding regions under very strong negative selection included binding sites of some chromatin and general transcription factors (TFs) and core motifs of some important TF families. Positive selection in TF binding sites tended to occur in network hub promoters. Many recurrent somatic cancer variants occurred in noncoding regulatory regions and thus might indicate mutations that drive cancer.
    Original languageEnglish
    Article number1235587
    Issue number6154
    Number of pages9
    Publication statusPublished - 2013


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