Show simple item record

dc.contributor.authorGussow, AB
dc.contributor.authorCopeland, BR
dc.contributor.authorDhindsa, RS
dc.contributor.authorWang, Q
dc.contributor.authorPetrovski, SA
dc.contributor.authorMajoros, WH
dc.contributor.authorAllen, AS
dc.contributor.authorGoldstein, DB
dc.date.accessioned2020-12-21T02:18:01Z
dc.date.available2020-12-21T02:18:01Z
dc.date.issued2017-08-10
dc.identifierpii: PONE-D-17-25024
dc.identifier.citationGussow, A. B., Copeland, B. R., Dhindsa, R. S., Wang, Q., Petrovski, S. A., Majoros, W. H., Allen, A. S. & Goldstein, D. B. (2017). Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. PLOS ONE, 12 (8), https://doi.org/10.1371/journal.pone.0181604.
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/11343/256867
dc.description.abstractThere is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the regions are intolerant of mutations and subject to purifying selection in the human lineage. We show that Orion is highly correlated with known intolerant regions as well as regions that harbor putatively pathogenic variation. This approach provides a mechanism to identify pathogenic variation in the human non-coding genome and will have immediate utility in the diagnostic interpretation of patient genomes and in large case control studies using whole-genome sequences.
dc.languageEnglish
dc.publisherPUBLIC LIBRARY SCIENCE
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleOrion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
dc.typeJournal Article
dc.identifier.doi10.1371/journal.pone.0181604
melbourne.affiliation.departmentMedicine (Austin & Northern Health)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titlePLoS One
melbourne.source.volume12
melbourne.source.issue8
dc.rights.licenseCC BY
melbourne.elementsid1229104
melbourne.contributor.authorPetrovski, Slave
dc.identifier.eissn1932-6203
melbourne.identifier.fundernameidNATIONAL INSTITUTE OF HEALTH, 5U01NS077303-03 / 2033677
melbourne.accessrightsOpen Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record