Responsible implementation of expanded carrier screening

  title={Responsible implementation of expanded carrier screening},
  author={Lidewij Henneman and Pascal Borry and Davit Chokoshvili and Martina C Cornel and Carla G. van El and Francesca Forzano and Alison Hall and Heidi Carmen Howard and Sandra Janssens and H{\"u}lya Kayserili and Phillis Lakeman and Anneke M Lucassen and Sylvia A Metcalfe and Lovro Vidmar and Guido de Wert and Wybo Dondorp and Borut Peterlin},
  booktitle={European Journal of Human Genetics},
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 offers carrier screening for multiple autosomal and X-linked recessive disorders… CONTINUE READING


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Expanded carrier screening tests currently on the commercial market

S Kingsmore
Eur J Hum Genet • 2014

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