Mayo Clinic GeneGuide: A population-scale genetic interpretation software for reporting pathogenic and likely pathogenic variants impacting the CDC Tier1 genes

Rory Olson,Joel Morales-Rosado,Stephanie Safgren,Hugues Sicotte, Angela Zieman, Angela Hansen,Mary Beth Karow,Teresa Kruisselbrink,Konstantinos Lazaridis,Eric Klee,Matthew Ferber

Genetics in Medicine（2022）

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摘要

Identifying disease-causing genetic alterations can have a significant impact on the health care of individuals. In an ostensibly healthy population, genetic screening will help guide the care of unaware individuals at increased risk.

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