医学遗传学检测技术课件.pptVIP

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  • 2024-07-22 发布于四川
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Figure3.?Detectionof?UPD?andIBDby?SNP?Arrayanalysis.?SNP?Arrayanalysisshowingevidenceofuniparentaldisomy(UPD)andidentitybydescent(IBD).(a)?UPD?fortheentirechromosome15isindicatedbyabsenceofheterozygosity(toppanel-lackofsignalat0.5Ballelefrequency(BAF)whichrepresentsgenotypeA/B)andnochangeincopynumber(bottompanel-allsignalsareat0Logratio).(b)Blocksofabsenceofheterozygosity(AOH)oftheproximalregionsofchromosome9pand9qasdemonstratedbylackofsignalsatthe0.5BAF.WithintheblockofAOHat9p(redoval)isthegeneforg

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