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Identifying distant relatives using benchtop-scale sequencing
Forensic Science International: Genetics ( IF 3.1 ) Pub Date : 2023-12-27 , DOI: 10.1016/j.fsigen.2023.103005
August E. Woerner , Nicole M. Novroski , Sammed Mandape , Jonathan L. King , Benjamin Crysup , Michael D. Coble

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.



中文翻译:

使用台式规模测序识别远亲

法医遗传谱系学(FGG)的遗传组成部分是对亲属关系的估计,通常在大量个体之间在基因组规模上进行。FGG 的前景是巨大的:与家谱记录和其他非遗传信息相结合,它可以间接识别感兴趣的人。FGG 的缺点是成本,因为它目前价格昂贵,并且需要法医遗传实验室不常见的化学物质(微阵列和高通量测序)。更常见的台式测序仪可以与靶向 PCR 测定相结合来进行 FGG,尽管这种方法对亲缘关系的分辨率有限。这项研究评估了低通测序,这是一种台式测序仪可以使用的替代策略,并且可以产生与高通测序相当的分辨率。来自三代谱系的样本被扩大到包括最多七级亲属(使用全基因组谱系模拟),并且使用与 GEDmatch 中发现的定性相似的算法评估恢复真实亲属关系系数的能力。我们表明,从桌面测序仪获得的1 × 全基因组测序中,可以可靠地推断出最多 7 级亲属 。

更新日期:2023-12-27
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