Software Tools for Analysis of Chromosomal Abnormalities in Pedigrees Using High Density Genomic Data SNPtrio

Abstract (Set) Description (Set) Chromosomal DNA alterations can be detected using high density single nucleotide polymorphism (SNP) microarrays. These include deletions and duplications (assessed by observing changes in copy number) and regions of homozygosity. The analysis of SNP data from trios can provide an additional category of information about the nature and origin of inheritance patterns, including uniparental disomy (UPD), loss of transmitted allele (LTA), and nonparental relationship. Proposed Use (Set) This technology can be commercialized as a tool to locate regions of uniparental inheritance (UPI) and Mendelian inconsistency (MI), identify the type (paternal vs. maternal, iso- vs. hetero-), and assess the associated statistical probability of occurrence by chance. SNPtrio's schema permits the identification of hemizygous or homozygous deletions as well as UPD. SNPtrio can be used to identify previously known UPD and deletion regions, and generated associated probability values. SNPtrio analysis of trisomy 21 (Down syndrome) cases and their parents permit identification of the parent of origin of the extra chromosomal copy.

Inventor(s): Pevsner, Jonathan ,Ting, Jason

Type of Offer: Licensing



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