Journal article
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
Yale University1
Massachusetts General Hospital2
Department of Systems Biology, Technical University of Denmark3
Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark4
Rutgers New Jersey Medical School5
Genome Research Limited6
University of Michigan, Ann Arbor7
Université de Genève8
Weill Cornell Medical College9
Cornell University10
Baylor College of Medicine11
Boston College12
Pediatric Surgical Research Laboratories13
...and 3 moreIdentifying 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.
| Language: | English |
|---|---|
| Publisher: | American Association for the Advancement of Science |
| Year: | 2013 |
| Pages: | 1235587-1235587 |
| ISSN: | 10959203 and 00368075 |
| Types: | Journal article |
| DOI: | 10.1126/science.1235587 |
Binding Sites Binding Sites/genetics*Genetic VariationGenome, HumanGenomicsHumansKruppel-Like Transcription Factors/metabolismMolecular Sequence Annotation/*methodsMutationNeoplasms/*geneticsPolymorphism, Single NucleotidePopulation/geneticsRNA, Untranslated/geneticsSelection, Genetic GENETICS Genetic Variation Genome, Human Genomics Humans Kruppel-Like Transcription Factors Molecular Sequence Annotation Mutation Neoplasms Polymorphism, Single Nucleotide Population RNA, Untranslated Research Articles Selection, Genetic ZNF274 protein, human
