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Genotyping Copy Number

Data Deliverables for Genotyping Assays

QC Results - This report contains the QC results collected for each sample during target preparation and hybridization, such as spectrophotometer readings and hybridization metrics.

Raw Data Files - Expression Analysis returns the primary, platform-specific data files and text files that can be incorporated into analysis software.

Data Summaries – Data summaries are also available summarizing calls for SNP IDs along with assessments of Hardy-Weinberg equilibrium, estimates of Copy Number and/or LOH, or other factors based on the analysis method and study design.

SNP Imputation Expression Analysis developed and tested a novel and robust computational strategy, referred to as SNP Imputation, for estimating the genotype at the “No Call” SNPs based on other data in the experiment. We have found that the imputed genotypes are up to 99% accurate, depending on the population diversity of the test specimens.

Copy Number Analysis Expression Analysis provides a variety of analysis options for estimating chromosomal copy number changes from SNP chip data. We can provide the information and results in tabular and/or graphical form including an aligned chromosomal view.

LOH Analysis Expression Analysis also performs analysis related to Loss of Heterozygosity (LOH), especially when matching normal populations are provided. Similar to Copy Number Analysis, the LOH analysis results can be provided in tabular and/or graphical form including an aligned chromosomal view.