Article

Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls

2020-06-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To evaluate the effectiveness and specificity of population-based genomic screening in Alabama. <h4>Methods</h4> The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5,369 participants for the presence of pathogenic/likely pathogenic (P/LP) variants using the Illumina Global Screening Array (GSA), with validation of all P/LP variants via Sanger sequencing in...

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Literature Corpus work: f29df639-88c8-5517-9109-f0a624967659
DOI: 10.1101/2020.05.28.122457

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