Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X. Chong, Seth Berger, Samantha M. Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame, Megan H. Hawley, E. Andres Rivera-Munoz, Stephanie P. DiTroia, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, , Tanner D. Jensen
The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.
Genetics in Medicine · Jun 26, 2024Peer-reviewedGenetics