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Control sample comparison software

The raw data analysis and genotype calling is the first step and handled by the instrumentation software to yield genotype calls for each SNP and subject. The PG SNP Screen software links the sample identifiers back to the clinical database and performs extensive quality control analysis. Quality control includes comparison of genotypes from replicates of the same sample and from control samples to known genotypes. Verification of Hardy Weinberg equilibrium and analysis of quality scores supplied by the instrumentation software assists in establishing quality thresholds on SNPs and DNA samples. [Pg.1769]


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