Uploaded January 2025 | Updated September 2026, 11 hours ago
Dr. Carolina Jaramillo Oquendo presents how the new PacBio Kinnex kits can be used in rare disease research. Showcasing a preprint from Nikki Whiffin's group, Carolina reveals how a single variant in a non-coding RNA can explain 0.5% of undiagnosed neurodevelopmental disorders, emphasizing the need for RNA sequencing. Her team, led by Professor Diana Brearley, is sequencing RNA in large rare disease cohorts to help improve diagnostics.
Initial studies using RT-PCR and RNA sequencing revealed the difficulty in predicting variant impacts without direct RNA analysis. Recent efforts with long-read sequencing have clarified events missed by short-read data, showing higher transcript diversity and better detection of clinically relevant genes. Although there are limitations, such as tissue specificity and data storage, long-read sequencing offers insights into novel transcripts and molecular mechanisms, paving the way for improved diagnostics and potential therapies.
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Dr. Carolina Jaramillo Oquendo presents how the new PacBio Kinnex kits can be used in rare disease research. Showcasing a preprint from Nikki Whiffin's group, Carolina reveals how a single variant in a non-coding RNA can explain 0.5% of undiagnosed neurodevelopmental disorders, emphasizing the need for RNA sequencing. Her team, led by Professor Diana Brearley, is sequencing RNA in large rare disease cohorts to help improve diagnostics.
Initial studies using RT-PCR and RNA sequencing revealed the difficulty in predicting variant impacts without direct RNA analysis. Recent efforts with long-read sequencing have clarified events missed by short-read data, showing higher transcript diversity and better detection of clinically relevant genes. Although there are limitations, such as tissue specificity and data storage, long-read sequencing offers insights into novel transcripts and molecular mechanisms, paving the way for improved diagnostics and potential therapies.
đź”” Subscribe to our channel youtube.com/channel/UC2y78sjVOumGc2da1tN629g?sub_confirmation=1
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
