Transdifferentiation with RNA sequencing aids diagnosis of genetic disorders
HMN 2024 – Researchers at Baylor College of Medicine have tested the feasibility of using human cell transdifferentiation with RNA sequencing to facilitate diagnoses of Mendelian disorders. The approach generated an overall diagnostic yield of 25.4% in a cohort of Undiagnosed Diseases Network cases. The findings are published in The American Journal of Human Genetics. Functional experiments such […]