U.S. National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
Forensic Sci Int Genet. 2018 Nov;37:106-115. doi: 10.1016/j.fsigen.2018.07.013. Epub 2018 Jul 19.
This manuscript reports Short Tandem Repeat (STR) sequence-based allele frequencies for 1036 samples across 27 autosomal STR loci: D1S1656, TPOX, D2S441, D2S1338, D3S1358, D4S2408, FGA, D5S818, CSF1PO, D6S1043, D7S820, D8S1179, D9S1122, D10S1248, TH01, vWA, D12S391, D13S317, Penta E, D16S539, D17S1301, D18S51, D19S433, D20S482, D21S11, Penta D, and D22S1045. Sequence data were analyzed by two bioinformatic pipelines and all samples have been evaluated for concordance with alleles derived from CE-based analysis at all loci. Each reported sequence includes high-quality flanking sequence and is properly formatted according to the most recent guidance of the International Society for Forensic Genetics. In addition, GenBank accession numbers are reported for each sequence, and associated records are available in the STRSeq BioProject (https://www.ncbi.nlm.nih.gov/bioproject/380127). The D3S1358 locus demonstrates the greatest average increase in heterozygosity across populations (approximately 10 percentage points). Loci demonstrating average increase in heterozygosity from 10 to 5 percentage points include (in descending order) D9S1122, D13S317, D8S1179, D21S11, D5S818, D12S391, and D2S441. The remaining 19 loci each demonstrate less than 5 percentage point increase in average heterozygosity. Discussion includes the utility of this data in understanding traditional CE results, such as informing stutter models and understanding migration challenges, and considerations for population sampling strategies in light of the marked increase in rare alleles for several of the sequence-based STR loci. This NIST 1036 data set is expected to support the implementation of STR sequencing forensic casework by providing high-confidence sequence-based allele frequencies for the same sample set which are already the basis for population statistics in many U.S. forensic laboratories.
本手稿报告了 27 个常染色体 STR 基因座中的 1036 个样本的短串联重复（STR）序列等位基因频率：D1S1656、TPOX、D2S441、D2S1338、D3S1358、D4S2408、FGA、D5S818、CSF1PO、D6S1043、D7S820、D8S1179、D9S1122、D10S1248、TH01、vWA、D12S391、D13S317、Penta E、D16S539、D17S1301、D18S51、D19S433、D20S482、D21S11、Penta D 和 D22S1045。通过两个生物信息学管道分析了序列数据，并且所有样本都经过了评估，以确保与所有基因座基于 CE 分析得出的等位基因一致。每个报告的序列都包括高质量的侧翼序列，并根据国际法医遗传学协会的最新指南进行了正确的格式化。此外，每个序列都报告了 GenBank accession 编号，相关记录可在 STRSeq 生物项目（https://www.ncbi.nlm.nih.gov/bioproject/380127）中获得。D3S1358 基因座在不同人群中的杂合度平均增加最多（约 10 个百分点）。杂合度平均增加 10-5 个百分点的基因座包括（按降序排列）D9S1122、D13S317、D8S1179、D21S11、D5S818、D12S391 和 D2S441。其余 19 个基因座的平均杂合度增加均小于 5 个百分点。讨论包括该数据在理解传统 CE 结果中的应用，例如为滞后模型提供信息和理解迁移挑战，以及考虑到几个基于序列的 STR 基因座的稀有等位基因的显著增加，在种群抽样策略方面的考虑。这个 NIST 1036 数据集有望通过为同一样本集提供高可信度的基于序列的等位基因频率来支持 STR 测序法医工作的实施，这些频率已经是美国许多法医实验室进行人群统计的基础。
