Article
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenatal diagnosis - 1 Sept 2020
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
Abstract excerpt
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 screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four...
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