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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Prenat Diagn
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley & Sons, Ltd. 2020
Ämnen:
Original Articles
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk