Probabilistic SNP Genotyping at Low DNA Concentrations

We present a statistical method for biallelic SNP genotyping that reduces the risk of wrong SNP calls and gives fewer no-calls. The method uses a symmetric multinomial logistic regression model with an intuitive graphical interpretation. Its probabilistic nature gives the user control over the accepted risk through the estimated genotype probabilities. We compared the performance of our method with the HID SNP Genotyper v.4.3.1 plug-in (HSG) (Thermo Fisher Scientific) and the additional criteria of the University of Copenhagen (UCPH) through a series of six DNA dilutions from 500 pg to 16 pg DNA.

Source: Forensic Science International: Genetics Supplement Series - October 13, 2022 Category: Forensic Medicine Authors: M.B. Nielsen, M.M. Andersen, P.S. Eriksen, H.S. Mogensen, N. Morling Source Type: research