Article

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

2024-02-09

Abstract excerpt

Since the first novel gene discovery for a Mendelian condition was made via exome sequencing (ES), 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 disease. Specifically, many individuals suspected to have a Mendelian condition ar...

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Literature Corpus work: af9717b1-b92e-5b86-b43f-32316fb63dcb
DOI: 10.1101/2024.02.05.579012

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