Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Insights into the human mitochondrial phylogeny have been primarily achieved by sequencing full mitochondrial genomes (mtGenomes). In forensic genetics (partial) mtGenome information can be used to assign haplotypes to their phylogenetic backgrounds, which may, in turn, have characteristic geographic distributions that would offer useful information in a forensic case. In addition and perhaps even more relevant in the forensic context, haplogroup-specific patterns of mutations form the basis for quality control of mtDNA sequences. The current method for establishing (partial) mtDNA haplotypes is Sanger-type sequencing (STS), which is laborious, time-consuming, and expensive. With the emergence of Next Generation Sequencing (NGS) technologies, the body of available mtDNA data can potentially be extended much more quickly and cost-efficiently. Customized chemistries, laboratory workflows and data analysis packages could support the community and increase the utility of mtDNA analysis in forensics. We have evaluated the performance of mtGenome sequencing using the Personal Genome Machine (PGM) and compared the resulting haplotypes directly with conventional Sanger-type sequencing. A total of 64 mtGenomes (>1 million bases) were established that yielded high concordance with the corresponding STS haplotypes (<0.02% differences). About two-thirds of the differences were observed in or around homopolymeric sequence stretches. In addition, the sequence alignment algorithm employed to align NGS reads played a significant role in the analysis of the data and the resulting mtDNA haplotypes. Further development of alignment software would be desirable to facilitate the application of NGS in mtDNA forensic genetics.

The present study assesses the degree of genetic structure and the presence of recent genetic bottlenecks in the wild boar population in Portugal. One hundred and ten individuals were sampled after capture during organised legal drive hunts, conducted in 58 municipalities across the continental territory, during the game seasons of 2002/2003 and 2003/2004. Individuals were genetically typed at six microsatellite loci using multiplex PCR amplification. Significant deviations from Hardy-Weinberg equilibrium were found for the total population of wild boar in Portugal. Wild boar population genetic structure was assessed using Bayesian methods, suggesting the existence of three subpopulations (North, Centre and South). Tests were conducted to detect the presence of potential migrants and hybrids between subpopulations. After exclusion of these individuals, three sets of wild boars representative of respective subpopulations were distinguished and tested for the effects of recent bottlenecks. Genetic distances between pairs of subpopulations were quantified using F ST and R ST estimators, revealing a variation of 0.138-0.178 and 0.107-0.198, respectively. On the basis of genetic and distribution data for Portuguese wild boar from the beginning of the 20th century, a model of strong demographic decline and contraction to isolated refuge areas at the national level, followed by a recovery and expansion towards former distribution limits is suggested. Some evidence points to present admixture among subpopulations in contact areas.

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