The new Y Chromosome Haplotype Reference Database

Abstract

After opening the first version of an internet-accessible worldwide reference database of Y chromosome profiles 14 years ago and six years after the last major relaunch the new YHRD 4.0 repository and website has been rolled-out. By November 2014 about 136k 9-locus haplotypes, among these 84k 17-locus haplotypes, 25k 23-locus haplotypes and 15k Y SNP profiles from 917 sampling locations in 128 countries have been submitted by more than 250 institutes and laboratories. In geographic terms, about 39% of the YHRD samples are from Europe, 32% from Asia, 16% from South America, 6% from North America, 4% from Africa and 2% from Oceania/Australia. Worldwide collaboration is the driving force for the rapid growth of the database and this, in turn, allows the evaluation and implementation of enhanced interpretation tools (variable frequency estimators, LR-based mixture and kinship analysis, Y-SNP-based ancestry assessment).

Keywords: Database; Frequency estimation; Haplotype; Metapopulation; Y chromosome; Y-STR.