利用台式测序鉴定远亲

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY
August E. Woerner , Nicole M. Novroski , Sammed Mandape , Jonathan L. King , Benjamin Crysup , Michael D. Coble
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引用次数: 0

摘要

法医遗传系谱学(FGG)的遗传部分是对亲属关系的估计,通常在大量个体之间的基因组范围内进行。FGG 的前景十分广阔:与家谱记录和其他非遗传信息相结合,FGG 可以间接确定相关人员的身份。FGG 的一个缺点是成本,因为它目前价格昂贵,而且需要法医基因实验室不常用的化学方法(微阵列和高通量测序)。更常见的台式测序仪可以与目标 PCR 检测相结合来进行 FGG,但这种方法对亲缘关系的分辨率有限。本研究对低通测序进行了评估,这是一种可用于台式测序仪的替代策略,其分辨率可与高通测序相媲美。对三代血统中的样本进行了扩增,最多可包括七代亲属(使用全基因组血统模拟),并使用与 GEDmatch 中类似的算法对恢复真实亲缘关系系数的能力进行了评估。我们的研究表明,通过桌面测序仪获得的 1× 全基因组测序,可以可靠地推断出多达七亲等的亲属关系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identifying distant relatives using benchtop-scale sequencing

The genetic component of forensic genetic genealogy (FGG) is an estimate of kinship, often conducted at genome scales between a great number of individuals. The promise of FGG is substantial: in concert with genealogical records and other nongenetic information, it can indirectly identify a person of interest. A downside of FGG is cost, as it is currently expensive and requires chemistries uncommon to forensic genetic laboratories (microarrays and high throughput sequencing). The more common benchtop sequencers can be coupled with a targeted PCR assay to conduct FGG, though such approaches have limited resolution for kinship. This study evaluates low-pass sequencing, an alternative strategy that is accessible to benchtop sequencers and can produce resolutions comparable to high-pass sequencing. Samples from a three-generation pedigree were augmented to include up to 7th degree relatives (using whole genome pedigree simulations) and the ability to recover the true kinship coefficient was assessed using algorithms qualitatively similar to those found in GEDmatch. We show that up to 7th degree relatives can be reliably inferred from 1 × whole genome sequencing obtainable from desktop sequencers.

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来源期刊
CiteScore
7.50
自引率
32.30%
发文量
132
审稿时长
11.3 weeks
期刊介绍: Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms for crime scene investigation. Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics.
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