Publication:
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

dc.contributor.coauthorDemidov,G.
dc.contributor.coauthorYaldiz,B.
dc.contributor.coauthorGarcia-Pelaez,J.
dc.contributor.coauthorde Boer,E.
dc.contributor.coauthorSchuermans,N.
dc.contributor.coauthorVan de Vondel,L.
dc.contributor.coauthorParamonov,I.
dc.contributor.coauthorJohansson,L.F.
dc.contributor.coauthorMusacchia,F.
dc.contributor.coauthorBenetti,E.
dc.contributor.coauthorBullich,G.
dc.contributor.coauthorSablauskas,K.
dc.contributor.coauthorBeltran,S.
dc.contributor.coauthorGilissen,C.
dc.contributor.coauthorHoischen,A.
dc.contributor.coauthorOssowski,S.
dc.contributor.coauthorde Voer,R.
dc.contributor.coauthorLohmann,K.
dc.contributor.coauthorOliveira,C.
dc.contributor.coauthorTopf,A.
dc.contributor.coauthorVissers,L.E.L.M.
dc.contributor.coauthorZguro,K.
dc.contributor.coauthorZara,F.
dc.contributor.coauthorZaganas,I.
dc.contributor.coauthorYepez,V.A.
dc.contributor.coauthorWirth,B.
dc.contributor.coauthorWebb,D.
dc.contributor.coauthorVerdin,H.
dc.contributor.coauthorVan Nieuwenhove,E.
dc.contributor.coauthorvan Montfrans,J.
dc.contributor.coauthorvan Heurck,R.
dc.contributor.coauthorvan der Veken,L.
dc.contributor.coauthorValle,L.
dc.contributor.coauthorUva,P.
dc.contributor.coauthorUdd,B.
dc.contributor.coauthorTrimouille,A.
dc.contributor.coauthorThompson,R.
dc.contributor.coauthorTartaglia,M.
dc.contributor.coauthorSznajer,Y.
dc.contributor.coauthorStriano,P.
dc.contributor.coauthorSteinke-Lange,V.
dc.contributor.coauthorSpilioti,M.
dc.contributor.coauthorScudieri,P.
dc.contributor.coauthorSchröck,E.
dc.contributor.coauthorSchon,K.
dc.contributor.coauthorScala,M.
dc.contributor.coauthorSavarese,M.
dc.contributor.coauthorSanten,G.W.E.
dc.contributor.coauthorRump,A.
dc.contributor.coauthorRuivenkamp,C.A.L.
dc.contributor.coauthorRoos,A.
dc.contributor.coauthorRooryck,C.
dc.contributor.coauthorRiva,A.
dc.contributor.coauthorRenieri,A.
dc.contributor.coauthorRatnaike,T.
dc.contributor.coauthorRadio,F.C.
dc.contributor.coauthorPrivitera,F.
dc.contributor.coauthorDe la Paz,M.P.
dc.contributor.coauthorPoppe,B.
dc.contributor.coauthorPolavarapu,K.
dc.contributor.coauthorPlatzer,K.
dc.contributor.coauthorPeterlin,B.
dc.contributor.coauthorPérez-Dueñas,B.
dc.contributor.coauthorPauly,M.
dc.contributor.coauthorParrini,E.
dc.contributor.coauthorOlimpio,C.
dc.contributor.coauthorReghan,M.O.
dc.contributor.coauthorde Benito,D.N.
dc.contributor.coauthorOsorio,A.N.
dc.contributor.coauthorMunell,F.
dc.contributor.coauthorMünchau,A.
dc.contributor.coauthorMoortgat,S.
dc.contributor.coauthorMonestier,O.
dc.contributor.coauthorMolnar,M.J.
dc.contributor.coauthorMeunier,C.
dc.contributor.coauthorMertes,C.
dc.contributor.coauthorMei,D.
dc.contributor.coauthorMaystadt,I.
dc.contributor.coauthorMay,P.
dc.contributor.coauthorMaver,A.
dc.contributor.coauthorMathioudakis,L.
dc.contributor.coauthorMasclaux,F.
dc.contributor.coauthorMary,S.
dc.contributor.coauthorDelgado,B.M.
dc.contributor.coauthorMarcé-Grau,A.
dc.contributor.coauthorMalaichamy,S.
dc.contributor.coauthorMacaya,A.
dc.contributor.coauthorLuknárová,R.
dc.contributor.coauthorMartín,E.L.
dc.contributor.coauthorLochmüller,H.
dc.contributor.coauthorLeitão,E.
dc.contributor.coauthorLederer,D.
dc.contributor.coauthorLeavis,H.
dc.contributor.coauthorLaner,A.
dc.contributor.coauthorLacombe,D.
dc.contributor.coauthorKrass,L.
dc.contributor.coauthorKorff,C.
dc.contributor.coauthorKokosali,E.
dc.contributor.coauthorKarakaya,M.
dc.contributor.coauthorKaradurmus,D.
dc.contributor.coauthorKapaki,E.
dc.contributor.coauthorJohari,M.
dc.contributor.coauthorIacomino,M.
dc.contributor.coauthorHuibers,M.
dc.contributor.coauthorHorvath,R.
dc.contributor.coauthorHolinski-Feder,E.
dc.contributor.coauthorHoffer,M.J.V.
dc.contributor.coauthorHerzog,R.
dc.contributor.coauthorHemelsoet,D.
dc.contributor.coauthorBouveret,E.H.
dc.contributor.coauthorHaimel,M.
dc.contributor.coauthorHackman,P.
dc.contributor.coauthorGuerrini,R.
dc.contributor.coauthorGrimbacher,B.
dc.contributor.coauthorGreally,M.
dc.contributor.coauthorGhani,H.
dc.contributor.coauthorGagneur,J.
dc.contributor.coauthorFurini,S.
dc.contributor.coauthorFerilli,M.
dc.contributor.coauthorFallerini,C.
dc.contributor.coauthorEvangeliou,A.
dc.contributor.coauthorEstevez,B.
dc.contributor.coauthorDuerinckx,S.
dc.contributor.coauthorDrakos,M.
dc.contributor.coauthorDestrée,A.
dc.contributor.coauthorDesir,J.
dc.contributor.coauthorDeschauer,M.
dc.contributor.coauthorDermaut,B.
dc.contributor.coauthorDepondt,C.
dc.contributor.coauthorDepienne,C.
dc.contributor.coauthorDelanty,N.
dc.contributor.coauthorDallapiccola,B.
dc.contributor.coauthorDahan,K.
dc.contributor.coauthorCossins,J.
dc.contributor.coauthorCordts,I.
dc.contributor.coauthorColobran,R.
dc.contributor.coauthorClaeys,K.
dc.contributor.coauthorCiolfi,A.
dc.contributor.coauthorCilio,M.-R.
dc.contributor.coauthorChinnery,P.F.
dc.contributor.coauthorCazurro-Gutiérrez,A.
dc.contributor.coauthorCavalleri,G.
dc.contributor.coauthorCarpancea,E.
dc.contributor.coauthorCapella,G.
dc.contributor.coauthorGarcia de Oteyza,A.C.
dc.contributor.coauthorByrne,S.
dc.contributor.coauthorBrohée,S.
dc.contributor.coauthorBoztug,K.
dc.contributor.coauthorBourbouli,M.
dc.contributor.coauthorBogaert,E.
dc.contributor.coauthorBijlsma,E.K.
dc.contributor.coauthorSánchez,E.B.
dc.contributor.coauthorBenson,K.
dc.contributor.coauthorBenoit,V.
dc.contributor.coauthorBeeson,D.
dc.contributor.coauthorMasó,L.B.
dc.contributor.coauthorBartolomaeus,T.
dc.contributor.coauthorBalicza,P.
dc.contributor.coauthorBalestrini,S.
dc.contributor.coauthorJavier Alonso García de la Rosa,F.
dc.contributor.coauthorAllen,N.
dc.contributor.coauthorKiliçarslan,Ö.A.
dc.contributor.coauthorAbramowicz,M.
dc.contributor.coauthorJamra,R.A.
dc.contributor.coauthorde Sainte Agathe,J.-M.
dc.contributor.coauthorKeren,B.
dc.contributor.coauthorMignot,C.
dc.contributor.coauthorHeron,D.
dc.contributor.coauthorDrunat,S.
dc.contributor.coauthorVerloes,A.
dc.contributor.coauthorMoore,R.
dc.contributor.coauthorMetcalfe,A.
dc.contributor.coauthorKöhler,S.
dc.contributor.coauthorZonneveld-Huijssoon,E.
dc.contributor.coauthorKerstjens Frederikse,W.S.
dc.contributor.coauthorAbbott,K.M.
dc.contributor.coauthorvan Gijn,M.
dc.contributor.coauthorRuvolo,D.
dc.contributor.coauthorRoelofs-Prins,D.
dc.contributor.coauthorNeerincx,P.B.
dc.contributor.coauthorvan der Vries,G.
dc.contributor.coauthorvan der Velde,J.K.
dc.contributor.coauthorSwertz,M.A.
dc.contributor.coauthorCarneiro,F.
dc.contributor.coauthorFerreira,P.
dc.contributor.coauthorGarrido,L.
dc.contributor.coauthorFernandes,S.
dc.contributor.coauthorGullo,I.
dc.contributor.coauthorFerreira,M.
dc.contributor.coauthorJosé,C.S.
dc.contributor.coauthorBarbosa-Matos,R.
dc.contributor.coauthorPeters,S.
dc.contributor.coauthorSommer,A.K.
dc.contributor.coauthorSpier,I.
dc.contributor.coauthorAretz,S.
dc.contributor.coauthorNeri,M.
dc.contributor.coauthorBigoni,S.
dc.contributor.coauthorGualandi,F.
dc.contributor.coauthorSelvatici,R.
dc.contributor.coauthorFerlini,A.
dc.contributor.coauthorPiluso,G.
dc.contributor.coauthorZanobio,M.
dc.contributor.coauthorZeuli,R.
dc.contributor.coauthorTorella,A.
dc.contributor.coauthorBanfi,S.
dc.contributor.coauthorPinelli,M.
dc.contributor.coauthorMorleo,M.
dc.contributor.coauthorNigro,V.
dc.contributor.coauthorSmal,N.
dc.contributor.coauthorMillevert,C.
dc.contributor.coauthorStamberger,H.
dc.contributor.coauthorWeckhuysen,S.
dc.contributor.coauthorDe Ridder,W.
dc.contributor.coauthorVan de Vondel,L.
dc.contributor.coauthorde Jonghe,P.
dc.contributor.coauthorDe Winter,J.
dc.contributor.coauthorde Vries,G.
dc.contributor.coauthorBaets,J.
dc.contributor.coauthorTimmerman,V.
dc.contributor.coauthorMüller,J.
dc.contributor.coauthorPini,V.
dc.contributor.coauthorPerry,L.
dc.contributor.coauthorSarkozy,A.
dc.contributor.coauthorZaharieva,I.
dc.contributor.coauthorMuntoni,F.
dc.contributor.coauthorRohrer,J.
dc.contributor.coauthorMoloney,P.
dc.contributor.coauthorBellampalli,R.
dc.contributor.coauthorSisodiya,S.M.
dc.contributor.coauthorMagrinelli,F.
dc.contributor.coauthorCali,E.
dc.contributor.coauthorMorsy,H.
dc.contributor.coauthorEfthymiou,S.
dc.contributor.coauthorVandrovcova,J.
dc.contributor.coauthorReilly,M.
dc.contributor.coauthorHoulden,H.
dc.contributor.coauthorHanna,M.
dc.contributor.coauthorCosta,A.
dc.contributor.coauthorRobert,G.
dc.contributor.coauthorDanis,D.
dc.contributor.coauthorRobinson,P.
dc.contributor.coauthorSpalding,D.
dc.contributor.coauthorThomas,C.
dc.contributor.coauthorFreeberg,M.
dc.contributor.coauthorKeane,T.
dc.contributor.coauthorParkinson,H.
dc.contributor.coauthorKrebsová,A.
dc.contributor.coauthorDoležalová,P.
dc.contributor.coauthorLišková,P.
dc.contributor.coauthorRyba,L.
dc.contributor.coauthorHavlovicová,M.
dc.contributor.coauthorFranková,V.
dc.contributor.coauthorKremliková,R.P.
dc.contributor.coauthorThomasová,D.
dc.contributor.coauthorTurnovec,M.
dc.contributor.coauthorMacek,M.,Jr.
dc.contributor.coauthorStojkovic,T.
dc.contributor.coauthorAtalaia,A.
dc.contributor.coauthorCohen,E.
dc.contributor.coauthorEymard,B.
dc.contributor.coauthorMetay,C.
dc.contributor.coauthorBen Yaou,R.
dc.contributor.coauthorNelson,I.
dc.contributor.coauthorAllamand,V.
dc.contributor.coauthorEvangelista,T.
dc.contributor.coauthorBonne,G.
dc.contributor.coauthorCoarelli,G.
dc.contributor.coauthorHeinzmann,A.
dc.contributor.coauthorGuillot-Noel,L.
dc.contributor.coauthorDavoine,C.-S.
dc.contributor.coauthorDurr,A.
dc.contributor.coauthorStevanin,G.
dc.contributor.coauthorLebreton,E.
dc.contributor.coauthorLucano,C.
dc.contributor.coauthorChahdil,M.
dc.contributor.coauthorHongnat,O.
dc.contributor.coauthorLagorce,D.
dc.contributor.coauthorHanauer,M.
dc.contributor.coauthorRath,A.
dc.contributor.coauthorBros-Facer,V.
dc.contributor.coauthorGumus,G.
dc.contributor.coauthorRaineri,E.
dc.contributor.coauthorGut,M.
dc.contributor.coauthorDabad,M.
dc.contributor.coauthorCodina,A.E.
dc.contributor.coauthorPicó,D.
dc.contributor.coauthorHernández,C.
dc.contributor.coauthorFernandez-Callejo,M.
dc.contributor.coauthorCorvo,A.
dc.contributor.coauthorPapakonstantinou,A.
dc.contributor.coauthorMatalonga,L.
dc.contributor.coauthorPiscia,D.
dc.contributor.coauthorGut,I.G.
dc.contributor.coauthorCouturier,V.
dc.contributor.coauthorBruel,A.-L.
dc.contributor.coauthorDuffourd,Y.
dc.contributor.coauthorDenommé-Pichon,A.-S.
dc.contributor.coauthorVitobello,A.
dc.contributor.coauthorThauvin,C.
dc.contributor.coauthorFaivre,L.
dc.contributor.coauthorJackson,A.
dc.contributor.coauthorAlexander,E.
dc.contributor.coauthorBanka,S.
dc.contributor.coauthorClayton-Smith,J.
dc.contributor.coauthorEngelhardt,K.
dc.contributor.coauthorHambleton,S.
dc.contributor.coauthorManera,J.D.
dc.contributor.coauthorBettolo,C.M.
dc.contributor.coauthorStraub,V.
dc.contributor.coauthorAbadijou,S.
dc.contributor.coauthorSukumaran,D.
dc.contributor.coauthorWang,Y.P.
dc.contributor.coauthorNalagandla,S.A.
dc.contributor.coauthorWarren,G.
dc.contributor.coauthorRiaz,U.
dc.contributor.coauthorGibson,S.
dc.contributor.coauthorBrookes,A.J.
dc.contributor.coauthorKleefstra,T.
dc.contributor.coauthorSagath,L.
dc.contributor.coauthorvan der Sanden,B.
dc.contributor.coauthorNeveling,K.
dc.contributor.coauthorSteehouwer,M.
dc.contributor.coauthorJanssen,E.
dc.contributor.coauthorPaske,I.T.
dc.contributor.coauthorvan Os,N.
dc.contributor.coauthorvan de Warrenburg,B.
dc.contributor.coauthorKamsteeg,E.-J.
dc.contributor.coauthorde Voer,R.
dc.contributor.coauthorSteyaert,W.
dc.contributor.coauthor’t Hoen,P.A.C.
dc.contributor.coauthorHoogerbrugge,N.
dc.contributor.coauthorScheffer,H.
dc.contributor.coauthorBrunner,H.
dc.contributor.coauthorLauxmann,S.
dc.contributor.coauthorLauerer-Braun,R.
dc.contributor.coauthorKegele,J.
dc.contributor.coauthorBoßelmann,C.
dc.contributor.coauthorLerche,H.
dc.contributor.coauthorHengel,H.
dc.contributor.coauthorSchöls,L.
dc.contributor.coauthorHeutink,P.
dc.contributor.coauthorBeijer,D.
dc.contributor.coauthorTraschütz,A.
dc.contributor.coauthorWilke,C.
dc.contributor.coauthorSynofzik,M.
dc.contributor.coauthorKolen,I.
dc.contributor.coauthorResch,B.
dc.contributor.coauthorKellner,M.
dc.contributor.coauthorXu,J.
dc.contributor.coauthorSchüle,R.
dc.contributor.coauthorSchulze-Hentrich,J.M.
dc.contributor.coauthorSchütz,L.
dc.contributor.coauthorPark,J.
dc.contributor.coauthorSturm,M.
dc.contributor.coauthorEllwanger,K.
dc.contributor.coauthorZurek,B.
dc.contributor.coauthorGraessner,H.
dc.contributor.coauthorHaack,T.B.
dc.contributor.coauthorRiess,O.
dc.contributor.coauthorLaurie,S.
dc.contributor.coauthorSolve-RD Consortium.
dc.contributor.departmentNDAL (Neurodegeneration Research Laboratory)
dc.contributor.departmentKUTTAM (Koç University Research Center for Translational Medicine)
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteLaboratory
dc.contributor.schoolcollegeinstituteResearch Center
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-03-06T20:59:49Z
dc.date.issued2024
dc.description.abstractWe report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs.
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.identifier.doi10.1038/s41525-024-00436-6
dc.identifier.issn2056-7944
dc.identifier.issue1
dc.identifier.quartileN/A
dc.identifier.scopus2-s2.0-85207830154
dc.identifier.urihttps://doi.org/10.1038/s41525-024-00436-6
dc.identifier.urihttps://hdl.handle.net/20.500.14288/27781
dc.identifier.volume9
dc.keywordsCopy number variants (CNVs)
dc.keywordsExome sequencing (ES)
dc.keywordsRare disease diagnosis
dc.keywordsGenetic reanalysis
dc.keywordsGenomic data
dc.keywordsUnsolved cases
dc.keywordsPrecision medicine
dc.keywordsMolecular genetics
dc.keywordsDiagnostic yield
dc.keywordsClinical genomics
dc.language.isoeng
dc.publisherNature Research
dc.relation.ispartofnpj Genomic Medicine
dc.subjectEducation and educational research
dc.subjectNeurosciences
dc.subjectPsychology, experimental
dc.titleComprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorBaşak, Ayşe Nazlı
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1Laboratory
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
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local.publication.orgunit2KUTTAM (Koç University Research Center for Translational Medicine)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2NDAL (Neurodegeneration Research Laboratory)
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