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Updated: Apr 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A one-page summary report of genome sequencing for the healthy adult
Jason L Vassy1, Heather M McLaughlin, Heather L McLaughlin
1Division of General Internal Medicine and Primary Care, Boston, Mass., USA.
Abstract:
As genome sequencing technologies increasingly enter medical practice, genetics laboratories must communicate sequencing results effectively to nongeneticist physicians. We describe the design and delivery of a clinical genome sequencing report, including a one-page summary suitable for interpretation by primary care physicians. To illustrate our preliminary experience with this report, we summarize the genomic findings from 10 healthy participants in a study of genome sequencing in primary care.
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