UNDERESTIMATION AND MISCLASSIFICATION OF MUTATIONS AT X CHROMOSOME STRs DEPEND ON POPULATION ’S ALLELIC PROFILE

Short tandem repeats are extremely abundant in the human genome and widely used in population and forensic genetics. The conventional approach to estimate mutation rates for STRs involves the detection of Mendelian incompatibilities and their frequency quantification, in family duos or trios. In this work, we aim to measure the impact this estimation methodology implies in the underestimation of mutation rates.We computed two independent experiences simulating one single-step mutation and one double step mutation in each pedigree.

Source: Forensic Science International: Genetics Supplement Series - October 20, 2019 Category: Forensic Medicine Authors: S. Ant ão-Sousa, E. Conde-Sousa, L. Gusmão, A. Amorim, N. Pinto Source Type: research