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首页> 外文期刊>BMC Medical Informatics and Decision Making >Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays
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Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays

机译：Trio-R：用于评估在安捷伦染色体微阵列上进行的三重研究中的产妇和亲子关系的脚本

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摘要

Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants. In order for the results of the trio study to be valid, the mother and father must be the true biological parents of the proband. As such, non-paternity and sample mix-ups are potential sources of error. To address these potential issues, we developed a computer script to accurately assess maternity and paternity using single nucleotide polymorphism (SNP) data generated by Agilent chromosomal microarrays, a platform-of-choice for clinical copy number testing. We assessed the performance of the script on 10 putative trios tested at our laboratory, and found that the numbers and proportions of discordant SNPs were useful for determining parental relationships. The results of the assessment also confirmed maternity and paternity in the 10 trios tested, and by doing so essentially excluded pre-analytical sample switching in these 30 samples. Computational analysis of SNP data can be implemented as a quality control measure for trio testing performed on Agilent microarrays.
机译：三重研究涉及对先证者和父母双方的样品进行测试，临床实验室经常使用三重研究来帮助对遗传变异（包括拷贝数变异）进行分类。为了使三人研究的结果有效，父母必须是先证者的真正亲生父母。因此，非陪产假和样本混淆是潜在的错误来源。为了解决这些潜在的问题，我们开发了一种计算机脚本，可以使用由安捷伦染色体微阵列产生的单核苷酸多态性（SNP）数据准确评估产妇和亲子关系，而安捷伦染色体微阵列是临床拷贝数测试的首选平台。我们评估了在实验室测试的10个假定三重奏上的脚本性能，发现不一致的SNP的数量和比例对于确定父母之间的关系很有用。评估结果还确认了所测试的10个三重奏中的产妇和父亲身份，并且这样做基本上排除了这30个样品中的分析前样品转换。 SNP数据的计算分析可以作为对安捷伦微阵列进行三重检测的质量控制手段来实施。

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