Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.

doi:10.1016/j.ajhg.2021.10.005

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Article

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.

American journal of human genetics - 2 Dec 2021

Blout Zawatsky Carrie L, Shah Nidhi, Machini Kalotina, Perez Emma, Christensen Kurt D, Zouk Hana, Steeves Marcie, Koch Christopher, Uveges Melissa, Shea Janelle, Gold Nina, Krier Joel, Boutin Natalie, Mahanta Lisa, Rehm Heidi L, Weiss Scott T, Karlson Elizabeth W, Smoller Jordan W, Lebo Matthew S, Green Robert C

Abstract excerpt

Over 100 million research participants around the world have had research array-based genotyping (GT) or genome 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...

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Identifiers

PMID: 34752750
DOI: 10.1016/j.ajhg.2021.10.005
PMCID: PMC8715145

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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