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P504: A universal filter enabling high throughput genomic screening

Year: 2023

Type: article

Abstract: In the era of genome sequencing, screening ostensibly healthy individuals for potentially reportable findings is rapidly expanding from querying smaller lists of highly curated actionable genes such as the secondary findings list recommended by the American College of Medical Genetics and Genomics to much larger lists that include thousands of genes across a diverse set of disease areas, including those classified as actionable by the Clinical Genome Resource. However, contrary to the use of genomic sequencing for rare disease diagnosis, which is guided by the indication, thereby restricting the number of variants that need to be assessed, screening can be a daunting task necessitating the assessment of up to 30 variants per genome.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2023.100551