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Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing

2019-07-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objectives</h4> To determine the analytical validity of SNP-chips for genotyping very rare genetic variants. <h4>Design</h4> Retrospective study using data from two publicly available resources, the UK Biobank and the Personal Genome Project. <h4>Setting</h4> Research biobanks and direct-to-consumer genetic testing in the UK and USA. <h4>Participants</h4> 49,908 individuals recruited to...

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Literature Corpus work: aa76ed93-549c-5df5-bd05-81001be14242
DOI: 10.1101/696799

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