Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions
Marie Balzotti, Linyan Meng, Dale Muzzey, Katherine Johansen Taber, Kyle A. Beauchamp, Myriad Genetics Curation Team, Baylor Genetics Curation Team, Rebecca Mar‐Heyming, Bethany A. Buckley, 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.
Human Mutation · May 7, 2020Peer-reviewedGenetic & Genomic Medicine