Article

ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing

2025-01-23

Abstract excerpt

<h4>Purpose</h4> Secondary findings (SF) are pathogenic or likely pathogenic variants in genes unrelated to the primary purpose of genetic testing. The American College of Medical Genetics (ACMG) provides guidelines on which SF should be reported, involving 81 genes linked to different conditions. With the increasing use of genome sequencing (GS), SF are more frequently detected, presenting challenges for healthca...

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Literature Corpus work: 36a14b0b-fd4f-522f-9dc8-40dcd6dcde7f
DOI: 10.1101/2025.01.22.25320957

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