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2)今日发布01篇（共计09篇）JAHAJan21,:9(2)今日发布05篇（共计21篇）JACCJan21,:75(2),-今日发布20篇HeartFailRevEarlyRecent,Jan14,今日发布01篇JIntervCardElectrophysiolEarlyRecent,Jan15,今日发布01篇RECOMMEND推荐阅读01全外显子序列测定在扩张型心肌病中应用的前瞻性评价JAHAresearch-articleJayRamchand,MathewWallis,etc.昨天19:17等51用户推荐阅读本文BackgroundDilatedcardiomyopathymaybeheritablebutshowsextensivegeneticheterogeneity.Theutilityofwholeexomesequencingasafirst‐linegenetictestforpatientswithdilatedcardiomyopathyinacontemporary“real‐world”settinghasnotbeenspecificallyestablished.Usingwholeexomesequencingwithrigorous,evidence‐basedvariantinterpretation,weaimedtoidentifytheprevalenceofamoleculardiagnosisinpatientswithdilatedcardiomyopathyinaclinicalsetting.扩张型心肌病可能是遗传性的，但表现出广泛的遗传异质性。全外显子组测序作为扩张型心肌病患者在当代“现实世界”环境下的一线基因检测的实用性尚未明确确立。利用全外显子序列和严格的、基于证据的变异解释，我们旨在确定在临床环境中扩张型心肌病患者的分子诊断的普遍性。MethodsandResultsWholeexomesequencingwasperformedineligiblepatients(n=83)withidiopathicorfamilialdilatedcardiomyopathy.VariantswereprioritizedforcurationinuptogenesandclassifiedusingAmericanCollegeofMedicalGeneticsandGenomics–basedcriteria.Ten(12%)hadapathogenicorlikelypathogenicvariant.Eight(10%)participantshadtruncatingTTNvariantsclassifiedasvariantsofuncertainsignificance.Five(6%)participantshadvariantsofunknownsignificanceaccordingtostrictAmericanCollegeofMedicalGeneticsandGenomicscriteriabutclassifiedaseitherpathogenicorlikelypathogenicbyotherclinicallaboratories.Pathogenicorlikelypathogenicvariantswerefoundin8genes(allwithintier1genes),2(20%)ofwhicharenotincludedinastandard
