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Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

8 Dec 2022

Abstract excerpt

BACKGROUND: Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of extensive preconception carrier screening (PCS) in consanguineous couples who may be at risk of rare genetic disorders. METHODS: We retrospectively analysed ES data from 65 probands affected with rare genetic disorders born from...

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PMID: 36600615
DOI: 10.1136/jmg-2022-108607

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