Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
Author:
Affiliation:
1. Geisinger Medical Center Danville Pennsylvania USA
Funder
Geisinger Health System Foundation
Regeneron Pharmaceuticals
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31887
Reference62 articles.
1. Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
2. The promise and peril of genomic screening in the general population
3. The “All of Us” Research Program
4. Actionable exomic incidental findings in 6503 participants: challenges of variant classification
5. Returning Individual Research Results to Participants
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