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Responsible implementation of expanded carrier screening

16 Mar 2016

Abstract excerpt

This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening...

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PMID: 26980105
DOI: 10.1038/ejhg.2015.271

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