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Challenges in providing residual risks in carrier testing

The probability an individual is a carrier for a recessive disorder despite a negative carrier test, referred to as residual risk, has been part of carrier screening for over 2 decades. Residual risks are calculated by subtracting the frequency of carriers of pathogenic variants detected by the test...

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Detalles Bibliográficos
Autores principales: Nussbaum, Robert Luke, Slotnick, Robert Nathan, Risch, Neil J.
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/PMC8453722/
https://www.ncbi.nlm.nih.gov/pubmed/34057205
http://dx.doi.org/10.1002/pd.5975