Article

Medically Actionable Secondary Findings from Whole Exome Sequencing (WES) Data in a Sample of 3,972 Individuals

2025-03-17

Abstract excerpt

The application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to lifethreatening and clinically actionable diseases. Clarifying the allelic frequencies of such variants in specific populations is a crucial ste...

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Literature Corpus work: e0549d3d-74b9-57cc-8aae-29964cf39623
DOI: 10.20944/preprints202503.1095.v1

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