Applied Research of Distinguishing Similar Y-STR Haplotypes by Y Chromosome Complete Sequencing

Background: To explore a technical method to distinguish similar Y-STR haplotypes and its value in deducing the differentiation the males in paternal line, we used a complete genome sequence of Y chromosome using streptavidin–biotin magnetic particle-based capture methodology (Y chromosome liquid phase probe capture next generation sequencing technique (NGS)) to detect male individuals with similar Y-STR haplotypes. Based on our independently developed mathematical model and the new topological structure of Y chromosome mutation sites as well as haplogroups and pedigree trees updated by the International Society of Genealogy (ISOGG) every year, we distinguished the coancestry of male individuals with similar Y-STR haplotypes and Results: Identifying differences between the judgment results of Y full sequencing and the pedigree survey results allowed for the estimation whether the individuals have close relation within 3~5 generations or not. Y chromosome liquid phase probe capture NGS technique could capture the 16M region and effectively analyze tens of thousands of Y-SNP loci. Among them, the coancestry obtained by analysis of 8 sample cases was consistent with the actual total case time obtained by family investigation. Conclusions: Detecting the Y-STR haplotype similarity between male individuals and conducting the previously reported mathematical model analysis by using Y chromosome liquid phase probe capture NGS technology can uncover the coancestry of the different male individuals. These results provide the foundation for further investigation of the similar Y-STR haplotype males in the Y-STR database.