Article
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Bowling Kevin M, Thompson Michelle L, Gray David E, Lawlor James M J, Williams Kelly, East Kelly M, Kelley Whitley V, Moss Irene P, Absher Devin M, Partridge E Christopher, Hurst Anna C E, Edberg Jeffrey C, Barsh Gregory S, Korf Bruce R, Cooper Gregory M
Abstract excerpt
PURPOSE: To evaluate the effectiveness and specificity of population-based genomic screening in Alabama. METHODS: The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5369 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 a CLIA-certified laboratory before...
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