Work

P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders

Year: 2024

Type: article

Abstract: Mendelian disorders predominantly result from genetic alterations at a single locus. Exome Sequencing (ES) and Whole-Genome Sequencing (WGS) have become standard in clinical practice for providing molecular diagnoses of Mendelian diseases. However, despite these comprehensive laboratory evaluations, about 50-75% of patients remain undiagnosed. Recently, transcriptomic analysis, or RNA-sequencing, has emerged as a promising new technology to augment diagnostic yields, with several research and translational studies demonstrating an incremental diagnostic rate of 7.5-36%.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101654