Developmental validation of a custom panel including 165 Y-SNPs for Chinese Y-chromosomal haplogroups dissection using the ion S5 XL system.

摘要: Abstract Massively parallel sequencing (MPS) technology has the capability to genotype hundreds thousands of SNPs from multiple samples, with high coverage in a single experimental run. MPS, which enables high-resolution Y haplogrouping limited DNA resources, attracted much interest Y-chromosomal applications, particularly human forensics and anthropological studies. Previously, we selected designed 72 Y-SNPs MPS panel aiming at Chinese population for providing basic structure haplogroup tree, then additional were screened out further subdivision into different populations by using pyrosequencing technology. In present study, customized that includes 165 based on our previous studies evaluated performance, sensitivity ability MPS-SNP analyze case-type samples Ion S5 XL System. concordant only four presented missing genotypes due low reads, five prone being designated heterozygotes, whereas designation other fully consistent results obtained Y-SNP typing tools. The analyst-interpreted profiles demonstrated targeted Y-SNPs, except nine poorly performing performed well could acquire achievable high-resolution. Moreover, this be adapted source complete stably 1 ng input DNA. summary, offers straightforward sample-to-haplogroup workflow would beneficial paternal lineage classification forensic pedigree searches, provide support application SNP analysis.