Article
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.
Human mutation - 1 Aug 2022
Smirnov Dmitrii, Schlieben Lea D, Peymani Fatemeh, Berutti Riccardo, Prokisch Holger
Abstract excerpt
Over the last 5 years, RNA sequencing (RNA-seq) has been established and is increasingly applied as an effective approach complementary to DNA sequencing in molecular diagnostics. Currently, three RNA phenotypes, aberrant expression, aberrant splicing, and allelic imbalance, are considered to provide information about pathogenic variants. By providing a high-throughput, transcriptome-wide functional readout on...
Topics
- Genetic Variation
- Humans
- Phenotype
- RNA
- Sequence Analysis, DNA
- Virulence