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How should severity be understood in the context of reproductive genetic carrier screening?

6 Feb 2023

Abstract excerpt

Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of severity is conceptually complex and underspecified. We analyse why severity is an important concept in carrier screening and for reproductive...

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PMID: 36744627
DOI: 10.1111/bioe.13136

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