Detection of Copy Number and Loss of Heterozygosity with OGTS’s ISCA

Long oligonucleotide probes combined with aCGH are well known to provide superior copy number variation (CNV) detection compared to shorter oligo probes and are being widely adopted by the cytogenetics community. The International Standards for Cytogenomic Arrays (ISCA) Consortium has set criteria in array design for the cytogenetic community. In this poster learn about a novel method to add SNP genotyping to the arrays in order to determine Loss of Heterozygosity (LOH) and Uniparental Disomy (UPD).