Article

Clinical utility of carrier screening using Whole Genome Sequencing (WGS) for reproductive risk assessment

2026-05-04

Abstract excerpt

<title>Abstract</title> <p> Background Genetic carrier screening shows great potential to prevent the transmission of hereditary diseases. Assessing reproductive risk allows for the identification of asymptomatic individuals who carry pathogenic variants that can be transmitted to their offspring. Methods In this study, WGS was conducted on 1,567 individuals (398 couples) from the NAGEN programme who opted for...

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Literature Corpus work: 56197db2-cfc0-5329-8835-741f7691cd44
DOI: 10.21203/rs.3.rs-9355324/v1

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