Genetic & Genomic MedicineHuman MutationPeer-reviewed
Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions
Marie Balzotti, Linyan Meng, Dale Muzzey…·Krista Moyer
The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.
11 citations