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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Prenat Diagn
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Ltd. 2020
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7540025/
https://ncbi.nlm.nih.gov/pubmed/32474937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5762
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