King's Forensics, Faculty of Life Sciences and Medicine, King's College London, 150 Stamford Street, London SE1 9NH, United kingdom.
King's Forensics, Faculty of Life Sciences and Medicine, King's College London, 150 Stamford Street, London SE1 9NH, United kingdom.
Forensic Sci Int Genet. 2018 May;34:57-61. doi: 10.1016/j.fsigen.2017.10.012. Epub 2017 Nov 4.
By using sequencing technology to genotype loci of forensic interest it is possible to simultaneously target autosomal, X and Y STRs as well as identity, ancestry and phenotypic informative SNPs, resulting in a breadth of data obtained from a single run that is considerable when compared to that generated with standard technologies. It is important however that this information aligns with the genotype data currently obtained using commercially available kits for CE-based investigations such that results are compatible with existing databases and hence can be of use to the forensic community. In this work, 400 samples were typed using commercially available STR kits and CE, as well as using the Ilumina ForenSeq™ DNA Signature Prep Kit and MiSeq FGx to assess concordance of autosomal STRs and population variability. Results show a concordance rate between the two technologies exceeding 99.98% while numerous novel sequence based alleles are described. In order to make use of the sequence variation observed, sequence specific allele frequencies were generated for White British and British Chinese populations.
通过使用测序技术对法医感兴趣的基因座进行基因分型，可以同时靶向常染色体、X 和 Y STR 以及身份、祖先和表型信息 SNP，从而从单次运行中获得大量数据，与使用标准技术相比，这是相当可观的。然而，重要的是，这些信息与当前使用商业上可用于基于 CE 的调查的试剂盒获得的基因型数据相匹配，以便结果与现有数据库兼容，因此可以为法医界所用。在这项工作中，使用商业上可用的 STR 试剂盒和 CE 对 400 个样本进行了分型，还使用了 Illumina ForenSeq™ DNA Signature Prep Kit 和 MiSeq FGx 来评估常染色体 STR 分型和群体变异性的一致性。结果表明，两种技术之间的一致性率超过 99.98%，同时描述了许多新的基于序列的等位基因。为了利用观察到的序列变异，为白种英国人和英国华裔人群生成了序列特异性等位基因频率。
