GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
Despite rapid advancements in clinical sequencing, over half of diagnostic evaluations still
lack definitive results. RNA-seq has shown promise in research settings for bridging this gap …
lack definitive results. RNA-seq has shown promise in research settings for bridging this gap …
Genetic and epigenetic diagnostics of viral susceptibility and inborn errors of immunity
L Covill - 2024 - openarchive.ki.se
In inborn errors of immunity (IEI), as in other monogenic rare diseases, rate of diagnosis has
failed to improve beyond 35% despite accessibility of whole genome sequencing for many …
failed to improve beyond 35% despite accessibility of whole genome sequencing for many …