Next-generation kinship deduction for forensic and genealogical analysis

利用DNA分析来确定家族关系已经很成熟。在亲子鉴定中，分析少量多态性标记（通常是短串联重复序列[STRs]），可以几乎确定地确定真正父亲的可能性。然而，在一些应用中，更遥远的关系是感兴趣的：在法医案件中，“家族搜索”利用了犯罪者及其亲属被期望具有“相似”DNA图谱的事实；在移民案件中，关系要求可能需要被证实；在家谱研究中，参与者可能对他们希望支持的关系有假设。亲属关系估计问题在这里更加困难，因为每增加一代分离两个个体，预期的基因组共享比例减半。通过添加更多的标记，例如使用全基因组SNP芯片，可以获得额外的能力。该项目将探索下一代测序法医多重基因和全基因组SNP/序列数据在关系估计中的潜力。法医相关数据将通过在现有系谱DNA资源上键入多重序列来生成。匿名的全基因组SNP数据将从合作者和工业合作伙伴DNA WorldWide获得。所有这些数据将包括单双亲遗传标记（Y染色体，线粒体DNA）以及双亲遗传标记（常染色体）和X染色体上的标记。

The use of DNA analysis to determine familial relationships is well established. In the paternity test, a small number of polymorphic markers (usually short-tandem repeats [STRs]) is analysed, and probabilities of true paternity can be established with near certainty. However, in some applications more distant relationships are of interest: in forensic casework 'familial searching' exploits the fact that a perpetrator and their relatives are expected to share 'similar' DNA profiles; in immigration cases a claim of relationship may need to be validated; in genealogical research participants may have hypotheses about their relationships which they wish to support. The kinship estimation problem is more difficult here because with each additional generation separating two individuals, the expected proportion of genome sharing halves. Additional power can be gained by adding more markers, e.g. by using genome-wide SNP chips.The project will explore the potential of next-generation sequencing forensic multiplexes and genome-wide SNP/sequence data in relationship estimation. Forensically relevant data will be generated by typing multiplexes on existing pedigree DNA resources. Anonymised genome-wide SNP data will be obtained from collaborators and industrial partner DNA WorldWide. All these data will include uniparentally-inherited markers (Y chromosome, mitochondrial DNA) as well as biparentally-inherited (autosomal) markers, and markers on the X chromosome.