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Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples

OBJECTIVE: To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions. METHODS: Partner testing compliance, unnecessary testing, turnaround time, and ability to identify at‐risk couples (ARCs)...

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Detalles Bibliográficos
Autores principales: Arjunan, Aishwarya, Torres, Raul, Gardiner, Anna, Kaseniit, Kristjan Eerik, Wootton, Jeff, Ben‐Shachar, Rotem, Johansen Taber, Katherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248057/
https://www.ncbi.nlm.nih.gov/pubmed/33450092
http://dx.doi.org/10.1002/pd.5900