Article

Returning Actionable Genomic Results in a Research Biobank: Analytic Validity, Clinical Implementation and Resource Utilization

2021-08-05

Abstract excerpt

Over 100 million research participants around the world have had research array-based genotyping (GT) or sequencing (GS), but only a small fraction of these have been offered return of actionable genomic findings (gRoR). Between 2017 and 2021, we analyzed genomic results from 36,417 participants in the Mass General Brigham Biobank and offered to confirm and return pathogenic and likely pathogenic variants (PLPVs)...

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Literature Corpus work: 4f4325f6-8590-53ad-9e4c-2334f5d5e076
DOI: 10.1101/2021.08.03.21261489

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