使它“时髦”-更新到SRM 2391d:基于pcr的DNA分析标准

IF 0.5 Q4 GENETICS & HEREDITY
Carolyn R. Steffen, Erica L. Romsos, Kevin M. Kiesler, Lisa A. Borsuk, Katherine B. Gettings, Peter M. Vallone
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引用次数: 0

摘要

标准参考物质(SRM)2391d:基于PCR的DNA图谱标准于2019年向法医界发布。下一代测序(NGS)被用作主要的认证方法,当标记有高覆盖率序列串时,会分配认证值。使用NGS分配值允许在短串联重复序列(STR)基因座之外的其他标记集,包括单核苷酸多态性(SNPs)和线粒体DNA(mtDNA)全基因组序列,被纳入分析证书(COA)。自2019年发布以来,已有几个商业NGS面板可用,包括Verogen ForenSeq mtDNA控制区、mtDNA全基因组、MainstAY和Kintelligence试剂盒。此外,赛默飞世尔公司的三个社区Ion AmpliSeq面板(MH-74 Plex、VISAGE和Y-SNP)现已上市。虽然组分的mtDNA全基因组序列已经被包括并且MainstAY没有引入新的STR标记,但是最近发布的其他面板允许包括>;在2022年秋季完成的更新中,SRM 2391d的COA增加了11000个SNP(例如,身份、祖先、表型、亲缘关系以及X-和Y-SNP)和74个微单倍型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Make it "SNPPY" - Updates to SRM 2391d: PCR-Based DNA Profiling Standard

Standard Reference Material (SRM) 2391d: PCR-Based DNA Profiling Standard was released to the forensic community in 2019. Next Generation Sequencing (NGS) was used as the primary method of certification, where certified values were assigned when a high coverage sequence string was available for a marker. Using NGS to assign values has allowed for additional marker sets beyond short tandem repeat (STR) loci, including single nucleotide polymorphisms (SNPs) and mitochondrial DNA (mtDNA) whole genome sequences, to be included in the Certificate of Analysis (COA). Since the 2019 release, several commercial NGS panels have become available including the Verogen ForenSeq mtDNA Control Region, mtDNA Whole Genome, MainstAY, and Kintelligence Kits. In addition, three community Ion AmpliSeq panels from Thermo Fisher (MH-74 Plex, VISAGE, and Y-SNP) are now available. While the mtDNA whole genome sequence for the components are already included and no new STR markers are introduced by MainstAY, the other recently released panels allow for the inclusion of > 11,000 additional SNPs (e.g., identity, ancestry, phenotype, kinship, and X- and Y-SNPs) and 74 microhaplotypes to the COA for SRM 2391d in an update completed by fall of 2022.

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来源期刊
Forensic Science International: Genetics Supplement Series
Forensic Science International: Genetics Supplement Series Medicine-Pathology and Forensic Medicine
CiteScore
0.40
自引率
0.00%
发文量
122
审稿时长
25 days
期刊介绍: The Journal of Forensic Science International Genetics Supplement Series is the perfect publication vehicle for the proceedings of a scientific symposium, commissioned thematic issues, or for disseminating a selection of invited articles. The Forensic Science International Genetics Supplement Series is part of a duo of publications on forensic genetics, published by Elsevier on behalf of the International Society for Forensic Genetics.
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