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http://dx.doi.org/10.1073/pnas.58.3.931DOI Listing

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Article Synopsis
  • - The study aimed to evaluate how effective single nucleotide polymorphisms (SNP) microarray analysis is for identifying uniparental disomy (UPD) using both trios (both parents) and duos (only one parent).
  • - Results showed that the Mendelian Inheritance Error (MIE) values were distinct for UPD and biparental inheritance, with specific ranges indicating UPD in trios and high percentages of heterozygous SNPs (AB%) suggesting UPD in duos.
  • - The findings highlight that SNP microarrays can effectively detect UPD, but there may be challenges in reliably identifying large homozygosity regions, affecting the overall effectiveness of UPD testing.
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