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dc.contributor.authorSanchis-Juan, Albaen
dc.contributor.authorStephens, Jonathanen
dc.contributor.authorFrench, Courtneyen
dc.contributor.authorGleadall, Nicholasen
dc.contributor.authorMégy, Karynen
dc.contributor.authorPenkett, Christopheren
dc.contributor.authorShamardina, Olgaen
dc.contributor.authorStirrups, Kathleenen
dc.contributor.authorDelon, Isabelleen
dc.contributor.authorDewhurst, Eleanoren
dc.contributor.authorDolling, Helenen
dc.contributor.authorErwood, Marieen
dc.contributor.authorGrozeva, Detelinaen
dc.contributor.authorStefanucci, Lucaen
dc.contributor.authorArno, Gavinen
dc.contributor.authorWebster, Andrew Ren
dc.contributor.authorCole, Trevoren
dc.contributor.authorAustin, Topunen
dc.contributor.authorBranco, Ricardo Garciaen
dc.contributor.authorOuwehand, Willemen
dc.contributor.authorRaymond, Lucyen
dc.contributor.authorCarss, Keren Jen
dc.date.accessioned2019-02-19T00:31:08Z
dc.date.available2019-02-19T00:31:08Z
dc.date.issued2018-12-07en
dc.identifier.issn1756-994X
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/289618
dc.format.mediumElectronicen
dc.languageengen
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumansen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectProtein-Serine-Threonine Kinasesen
dc.subjectHeterogeneous-Nuclear Ribonucleoprotein Uen
dc.subjectCell Cycle Proteinsen
dc.subjectDNA-Binding Proteinsen
dc.subjectTranscription Factorsen
dc.subjectSequence Analysis, DNAen
dc.subjectMutationen
dc.subjectGenome, Humanen
dc.subjectFemaleen
dc.subjectMaleen
dc.subjectGenomic Structural Variationen
dc.subjectHigh-Throughput Nucleotide Sequencingen
dc.titleComplex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.en
dc.typeArticle
prism.issueIdentifier1en
prism.publicationDate2018en
prism.publicationNameGenome medicineen
prism.startingPage95
prism.volume10en
dc.identifier.doi10.17863/CAM.36867
dcterms.dateAccepted2018-11-23en
rioxxterms.versionofrecord10.1186/s13073-018-0606-6en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-12-07en
dc.contributor.orcidSanchis-Juan, Alba [0000-0003-2885-4692]
dc.contributor.orcidFrench, Courtney [0000-0001-7620-1544]
dc.contributor.orcidMégy, Karyn [0000-0002-2826-3879]
dc.contributor.orcidShamardina, Olga [0000-0003-4994-2157]
dc.contributor.orcidStirrups, Kathleen [0000-0002-6823-3252]
dc.contributor.orcidDolling, Helen [0000-0001-6279-3622]
dc.contributor.orcidStefanucci, Luca [0000-0002-4352-1151]
dc.contributor.orcidAustin, Topun [0000-0002-8428-8624]
dc.contributor.orcidOuwehand, Willem [0000-0002-7744-1790]
dc.contributor.orcidRaymond, Lucy [0000-0003-2652-3355]
dc.identifier.eissn1756-994X
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idCambridge University Hospitals NHS Foundation Trust (CUH) (BRC 2012-2017)


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International