Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss-中国期刊网

摘要 Hearinglossisoneofthemostcommonbirthdefects,withinheritedgeneticdefectsplayanimportantrole,contributingtoabout60%ofdeafnessoccurringininfants.However,hearingimpairmentisgeneticallyheterogeneous,withbothcommonandrareformsoccurringduetomutationsinestimated500genes.Duetothelargenumberandpresumablylowmutationfrequenciesofthosegenes,itwouldbehighlyexpensiveandtime-consumingtoaddressthisissuebyconventionalgene-by-geneSangersequencing.Next-generationsequencingisarevolutionarytechnologythatallowsthesimultaneousscreeningofmutationsinalargenumberofgenes.Itiscosteffectivecomparedtoclassicalstrategiesoflinkageanalysisanddirectsequencingwhenthenumberorsizeofgenesislarge,andthushasbecomeahighlyefficientstrategyforidentifyingnovelcausativegenesandmutationsinvolvedinheritabledisease.Inthisreview,wedescribemajorNGSmethodologiescurrentlyusedforgeneticdisordersandhighlightapplicationsofthesetechnologiesinstudiesofmoleculardiagnosisandthediscoveryofgenesimplicatedinnon-syndromichearingloss.

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Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss

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Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss

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