Transcriptomics and Mendelian Disorders

• Whole-exome sequencing (WES) has a diagnostic rate of 25-52% for Mendelian disorders.
• Non-coding variants (NCV) may contribute to the remaining undiagnosed cases.
• Whole transcriptome sequencing (WTS) is a promising supplement to WES.
• Transcript-deleterious variants (TDVs) account for 15% of all "solved" cases in a cohort of 5647 families.
• RNA analysis can establish a diagnosis in 13.5% of patients with "negative" clinical WES reports.
• RT-PCR is effective in obtaining definitive results for the overwhelming majority of variants.
• TDVs may modulate penetrance even in highly penetrant Mendelian disorders.
• NCVs mediate their effects through RNA either directly or indirectly.
• Splice-altering variants contribute 15-60% of disease-causing mutations.
• Transcriptomics holds a promising role in delineating Mendelian diseases.

Are you interested in the latest breakthroughs in genetic testing and diagnosis for Mendelian disorders? Take this quiz to test your knowledge on the role of whole-exome sequencing (WES), non-coding variants (NCV), and whole transcriptome sequencing (WTS) in identifying disease-causing mutations. Learn about the significance of transcript-deleterious variants (TDVs) and how they can modulate penetrance, and explore the impact of NCVs on RNA function. Discover the importance