1 Department of Systems Biology, Technical University of Denmark2 Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark3 Yale University4 Wellcome Trust Genome Campus5 University of Michigan6 University of Geneva Medical School7 Weill Cornell Medical College8 Cornell University9 Baylor College of Medicine10 Boston College11 Pediatric Surgical Research Laboratories12 Massachusetts General Hospital13 Rutgers New Jersey Medical School14 Cornell University15 Baylor College of Medicine16 Boston College
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.