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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/23103
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dc.contributor.authorDolzhenko, Egor-
dc.contributor.authorBennett, Mark F-
dc.contributor.authorRichmond, Phillip A-
dc.contributor.authorTrost, Brett-
dc.contributor.authorChen, Sai-
dc.contributor.authorvan Vugt, Joke J F A-
dc.contributor.authorNguyen, Charlotte-
dc.contributor.authorNarzisi, Giuseppe-
dc.contributor.authorGainullin, Vladimir G-
dc.contributor.authorGross, Andrew M-
dc.contributor.authorLajoie, Bryan R-
dc.contributor.authorTaft, Ryan J-
dc.contributor.authorWasserman, Wyeth W-
dc.contributor.authorScherer, Stephen W-
dc.contributor.authorVeldink, Jan H-
dc.contributor.authorBentley, David R-
dc.contributor.authorYuen, Ryan K C-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorEberle, Michael A-
dc.date2020-04-28-
dc.date.accessioned2020-05-05T23:59:24Z-
dc.date.available2020-05-05T23:59:24Z-
dc.date.issued2020-04-28-
dc.identifier.citationGenome biology 2020; 21(1): 102-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/23103-
dc.description.abstractRepeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the need for methods that do not require pre-specified candidate repeats. To address this need, we introduce ExpansionHunter Denovo, an efficient catalog-free method for genome-wide repeat expansion detection. Analysis of real and simulated data shows that our method can identify large expansions of 41 out of 44 pathogenic repeats, including nine recently reported non-reference repeat expansions not discoverable via existing methods.-
dc.language.isoeng-
dc.subjectFragile X syndrome-
dc.subjectFriedreich ataxia-
dc.subjectGenome-wide analysis-
dc.subjectHuntington disease-
dc.subjectMyotonic dystrophy type 1-
dc.subjectRepeat expansions-
dc.subjectShort tandem repeats-
dc.subjectWhole-genome sequencing data-
dc.titleExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.-
dc.typeJournal Article-
dc.identifier.journaltitleGenome biology-
dc.identifier.affiliationIllumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA-
dc.identifier.affiliationDepartment of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M5S 2E5, Canadaen
dc.identifier.affiliationCentre for Molecular Medicine and Therapeutics, BC Children's Hospital, University of British Columbia, Vancouver, BC, V5Z 4H4, Canadaen
dc.identifier.affiliationThe Centre for Applied Genomics, The Hospital for Sick Children, 686 Bay Street, Toronto, ON, M5G 0A4, Canadaen
dc.identifier.affiliationThe McLaughlin Centre, University of Toronto, 686 Bay Street, Toronto, ON, M5G 0A4, Canadaen
dc.identifier.affiliationEpilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC, 3052, Australiaen
dc.identifier.affiliationPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC, 3052, Australiaen
dc.identifier.affiliationGenetics and Genome Biology, The Hospital for Sick Children, 686 Bay Street, Toronto, ON, M5G 0A4, Canadaen
dc.identifier.affiliationIllumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA-
dc.identifier.affiliationDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands-
dc.identifier.affiliationNew York Genome Center, 101 Avenue of the Americas, New York, 10013, USA-
dc.identifier.affiliationDepartment of Neurology, UMC Utrecht Brain Center, Utrecht University, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands-
dc.identifier.affiliationIllumina Cambridge Ltd, Illumina Centre, 19 Granta Park, Great Abington, Cambridge, CB21 6DF, UK-
dc.identifier.affiliationIllumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA-
dc.identifier.doi10.1186/s13059-020-02017-z-
dc.identifier.pubmedid32345345-
dc.type.austinJournal Article-
local.name.researcherBennett, Mark F
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.grantfulltextnone-
crisitem.author.deptEpilepsy Research Centre-
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