TY - JOUR
T1 - Y-STR frequency surveying method
T2 - A critical reappraisal
AU - Willuweit, Sascha
AU - Caliebe, Amke
AU - Andersen, Mikkel Meyer
AU - Roewer, Lutz
PY - 2011/3
Y1 - 2011/3
N2 - Reasonable formalized methods to estimate the frequencies of DNA profiles generated from lineage markers have been proposed in the past years and were discussed in the forensic community. Recently, collections of population data on the frequencies of variations in Y chromosomal STR profiles have reached a new quality with the establishment of the comprehensive neatly quality-controlled reference database YHRD. Grounded on such unrivalled empirical material from hundreds of populations studies the core assumption of the Haplotype Frequency Surveying Method originally described 10 years ago can be tested and improved. Here we provide new approaches to calculate the parameters used in the frequency surveying method: a maximum likelihood estimation of the regression parameters (r1, r2, s1 and s2) and a revised Frequency Surveying framework with variable binning and a database preprocessing to take the population sub-structure into account. We found good estimates for 11 metapopulations using both approaches and demonstrate that the statistical basis of the method is well supported and independent of the population under study. The results of the estimation process are reliable and robust if the underlying datasets are large and representative and show small average and pairwise genetic distances.
AB - Reasonable formalized methods to estimate the frequencies of DNA profiles generated from lineage markers have been proposed in the past years and were discussed in the forensic community. Recently, collections of population data on the frequencies of variations in Y chromosomal STR profiles have reached a new quality with the establishment of the comprehensive neatly quality-controlled reference database YHRD. Grounded on such unrivalled empirical material from hundreds of populations studies the core assumption of the Haplotype Frequency Surveying Method originally described 10 years ago can be tested and improved. Here we provide new approaches to calculate the parameters used in the frequency surveying method: a maximum likelihood estimation of the regression parameters (r1, r2, s1 and s2) and a revised Frequency Surveying framework with variable binning and a database preprocessing to take the population sub-structure into account. We found good estimates for 11 metapopulations using both approaches and demonstrate that the statistical basis of the method is well supported and independent of the population under study. The results of the estimation process are reliable and robust if the underlying datasets are large and representative and show small average and pairwise genetic distances.
KW - Y-STR haplotype
KW - Haplotype frequency estimation
KW - YHRD
KW - Bootstrap
KW - MLE
U2 - 10.1016/j.fsigen.2010.10.014
DO - 10.1016/j.fsigen.2010.10.014
M3 - Journal article
SN - 1872-4973
VL - 5
SP - 84
EP - 90
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 2
ER -