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My sister's keeper?: genomic research and the identifiability of siblings

机译:我姐姐的守护者?:基因组研究和兄弟姐妹的可识别性

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Background Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. Methods We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. Results Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency ≤ 0.20, (N = 452684, 65.1%) we achieve 91.9% inference accuracy for sibling genotypes. Conclusion These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.
机译:尽管尚未量化这些数据所包含的家族信息量,但SNP的背景基因组测序越来越普遍。方法我们提供了一个框架来衡量患者SNP基因型披露的同胞风险,并证明同胞SNP基因型可以相当准确地推断出来。结果扩展此推理技术,我们确定在通常变化的SNP处,非常少的匹配项足以确认同胞关系,表明已发布的序列数据可以可靠地用于导出同胞身份。使用HapMap三重组数据,在一个孩子为纯合子主要,次要等位基因频率≤0.20的SNP处(N = 452684,65.1%),我们对同胞基因型的推断准确性达到91.9%。结论这些发现表明,使用推断的家族基因组数据会产生很大的歧视和隐私风险。

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