Three Software Tools for Analysis of Chromosomal Abnormalities in High Density Genomic Data

Abstract (Set) High density single nucleotide polymorphism (SNP) data have been used to identify chromosomal changes in DNA samples. A current challenge is to identify disease associated changes such as deletions and duplications as well as inheritance patterns. JHU scientists have developed a software tool for pairwise comparison of SNP genotype and copy number data. JHU scientists have also developed a software tool to assign meiotic crossover points to data from grandparents and grandchildren. Description (Set) Proposed Use (Set) These software tools can be used for pairwise comparison of SNP data for the identification of shared blocks to genetic material. They can be used to visualize and identify blocks of grandparental origin in three generational pedigrees. The software tool can be used to generate synthetic individual genotypes and probe intensity data to create synthetic families.

Inventor(s): Pevsner, Jonathan ,Roberson, Elisha

Type of Offer: Licensing



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