Article
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024
Chong Jessica X, Berger Seth I, Baxter Samantha, Smith Erica, Xiao Changrui, Calame Daniel G, Hawley Megan H, Rivera-Munoz E Andres, DiTroia Stephanie, Bamshad Michael J, Rehm Heidi L
Abstract excerpt
Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie Mendelian conditions coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare diseases. Specifically, many individuals suspected to have a Mendelian condition are...
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