Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

BACKGROUND: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes...

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Detalles Bibliográficos
Autores principales: Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, Ben‐Shachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel A., Johansen Taber, Katherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540025/
https://www.ncbi.nlm.nih.gov/pubmed/32474937
http://dx.doi.org/10.1002/pd.5762

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