Open AccessNext Generation Sequencing Plus (NGS+) with Y-chromosomal Markers for Forensic Pedigree Searches
Author(s) -
Xiaoqin Qian,
Jiayi Hou,
Zheng Wang,
Yi Ye,
Min Lang,
Tianyu Gao,
Jing Liu,
Yiping Hou
Publication year - 2017
Publication title -
scientific reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.24
H-Index - 213
ISSN - 2045-2322
DOI - 10.1038/s41598-017-11955-x
Subject(s) - haplotype , massive parallel sequencing , genetics , biology , forensic identification , microsatellite , dna profiling , y str , haplogroup , dna sequencing , typing , computational biology , dna , gene , genotype , allele
There is high demand for forensic pedigree searches with Y-chromosome short tandem repeat (Y-STR) profiling in large-scale crime investigations. However, when two Y-STR haplotypes have a few mismatched loci, it is difficult to determine if they are from the same male lineage because of the high mutation rate of Y-STRs. Here we design a new strategy to handle cases in which none of pedigree samples shares identical Y-STR haplotype. We combine next generation sequencing (NGS), capillary electrophoresis and pyrosequencing under the term ‘NGS+’ for typing Y-STRs and Y-chromosomal single nucleotide polymorphisms (Y-SNPs). The high-resolution Y-SNP haplogroup and Y-STR haplotype can be obtained with NGS+. We further developed a new data-driven decision rule, FSindex, for estimating the likelihood for each retrieved pedigree. Our approach enables positive identification of pedigree from mismatched Y-STR haplotypes. It is envisaged that NGS+ will revolutionize forensic pedigree searches, especially when the person of interest was not recorded in forensic DNA database.