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1、ThenewenglandjournalofmedicineOriginalArticleResolutionofDiseasePhenotypesResultingfromMultilocusGenomicVariationJenniferE.Posey,M.D.,Ph.D.,TamarHarel,M.D.,Ph.D.,PengfeiLiu,Ph.D.,JillA.Rosenfeld,M.S.,RegisA.James,Ph.D.,ZeynepH.CobanAkdemir,Ph.D.,MagdalenaWalkiewicz,Ph.D
2、.,WeiminBi,Ph.D.,RuiXiao,Ph.D.,YanDing,M.D.,FanXia,Ph.D.,ArthurL.Beaudet,M.D.,DonnaM.Muzny,M.S.,RichardA.Gibbs,Ph.D.,EricBoerwinkle,Ph.D.,ChristineM.Eng,M.D.,V.ReidSutton,M.D.,ChadA.Shaw,Ph.D.,SharonE.Plon,M.D.,Ph.D.,YapingYang,Ph.D.,andJamesR.Lupski,M.D.,Ph.D.,D.Sc.ABS
3、TRACTBACKGROUNDWhole-exomesequencingcanprovideinsightintotherelationshipbetweenob-FromtheDepartmentsofMolecularandservedclinicalphenotypesandunderlyinggenotypes.HumanGenetics(J.E.P.,T.H.,P.L.,J.A.R.,Z.H.C.A.,M.W.,W.B.,R.X.,F.X.,A.L.B.,D.M.M.,R.A.G.,C.M.E.,V.R.S.,C.A.S.,
4、METHODSS.E.P.,Y.Y.,J.R.L.)andPediatrics(S.E.P.,Weconductedaretrospectiveanalysisofdatafromaseriesof7374consecutiveJ.R.L.),BaylorGenetics(P.L.,M.W.,W.B.,unrelatedpatientswhohadbeenreferredtoaclinicaldiagnosticlaboratoryforR.X.,Y.D.,F.X.,R.A.G.,C.M.E.,Y.Y.),Pro-graminStru
5、cturalandComputationalwhole-exomesequencing;ourgoalwastodeterminethefrequencyandclinicalBiologyandMolecularBiophysicscharacteristicsofpatientsforwhommorethanonemoleculardiagnosiswasre-(R.A.J.),andHumanGenomeSequenc-ported.Thephenotypicsimilaritybetweenmolecularlydiagnos
6、edpairsofdis-ingCenter(D.M.M.,R.A.G.,E.B.,S.E.P.,J.R.L.),BaylorCollegeofMedicine,theeaseswascalculatedwiththeuseoftermsfromtheHumanPhenotypeOntology.HumanGeneticsCenter,UniversityofTexasHealthScienceCenter(E.B.),andRESULTStheDepartmentofPediatrics(S.E.P.,Amoleculardiagn
7、osiswasrenderedfor2076of7374patients(28.2%);amongJ.R.L.)andTexasChildren’sCancerCen-thesepatients,101(4.9%)haddiagnosesthatinvolvedtwoormorediseaseloci.ter(S.E.P.),TexasChildren’sHospital—allinHouston.AddressreprintrequestsWealsoanalyzedparentalsamples,whenavailable,and
8、foundthatdenovovari-toDr.PoseyorDr.LupskiattheBaylorantsaccountedfor67.8%(61of90)ofpathogenicvariantsinautosom
