So likely this will underestimate off target options. However, BLAST will give homology to all transcripts, also those not expressed in brain or e.g. only in utero. RNAsequencing can identify direct and indirect off target effects, but this needs to be done in a relevant (human neuronal) cell line
October 8, 2026 at 6:12 AM
So likely this will underestimate off target options. However, BLAST will give homology to all transcripts, also those not expressed in brain or e.g. only in utero. RNAsequencing can identify direct and indirect off target effects, but this needs to be done in a relevant (human neuronal) cell line
Reliable #AlternativeSplicing detection is key for clinical biomarkers.
This review highlights #RNAsequencing benchmarking, standardization and analytical optimization for reproducible results. #Bioinformatics
#OpenAccess in #GenesAndDiseases: doi.org/10.1016/j.ge...
This review highlights #RNAsequencing benchmarking, standardization and analytical optimization for reproducible results. #Bioinformatics
#OpenAccess in #GenesAndDiseases: doi.org/10.1016/j.ge...
October 2, 2026 at 4:48 PM
Reliable #AlternativeSplicing detection is key for clinical biomarkers.
This review highlights #RNAsequencing benchmarking, standardization and analytical optimization for reproducible results. #Bioinformatics
#OpenAccess in #GenesAndDiseases: doi.org/10.1016/j.ge...
This review highlights #RNAsequencing benchmarking, standardization and analytical optimization for reproducible results. #Bioinformatics
#OpenAccess in #GenesAndDiseases: doi.org/10.1016/j.ge...
Authors performed RNAsequencing for the different groups and showed that the wild type clearly were distinguished from the mdx mice. The aged treated mice clustered with the untreated aged mice, while the treated adult mice were clustering more to the wild type adult mice.
October 1, 2026 at 11:08 PM
Authors performed RNAsequencing for the different groups and showed that the wild type clearly were distinguished from the mdx mice. The aged treated mice clustered with the untreated aged mice, while the treated adult mice were clustering more to the wild type adult mice.
Furthermore, for now most RNAsequencing datasets are from short read sequencing studies, meaning you may know whether individual exons are joined, but not how they are combined. E.g. if exon 3 and 8 are sometimes skipped, you won’t know if you they are always, sometimes or never skipped together.
June 4, 2026 at 6:23 AM
Furthermore, for now most RNAsequencing datasets are from short read sequencing studies, meaning you may know whether individual exons are joined, but not how they are combined. E.g. if exon 3 and 8 are sometimes skipped, you won’t know if you they are always, sometimes or never skipped together.
Authors correctly point out that introns are often overlooked (and even when they are studied intronic variants are difficult to interpret). RNAsequencing can elucidate whether intronic or exonic variant influence e.g. splicing. However, this requires cells or tissues expressing the transcript.
May 25, 2026 at 2:30 PM
Authors correctly point out that introns are often overlooked (and even when they are studied intronic variants are difficult to interpret). RNAsequencing can elucidate whether intronic or exonic variant influence e.g. splicing. However, this requires cells or tissues expressing the transcript.
Upstream ORFs were located in 2210 exons (that did not also contain the true ATG start site) in 1572 genes.
Then authors assessed RNAsequencing datasets for various tissues and cell types to assess whether the upstream ORF containing exons were indeed expressed.
Then authors assessed RNAsequencing datasets for various tissues and cell types to assess whether the upstream ORF containing exons were indeed expressed.
May 13, 2026 at 5:55 AM
Upstream ORFs were located in 2210 exons (that did not also contain the true ATG start site) in 1572 genes.
Then authors assessed RNAsequencing datasets for various tissues and cell types to assess whether the upstream ORF containing exons were indeed expressed.
Then authors assessed RNAsequencing datasets for various tissues and cell types to assess whether the upstream ORF containing exons were indeed expressed.
RNAsequencing showed that the Duchenne and mdx cells were less developed, expressed higher levels of fibrotic genes and had mitochondrial misregulation. Authors finally confirmed that the cells were more sensitive to oxidative stress.
January 26, 2026 at 7:26 AM
RNAsequencing showed that the Duchenne and mdx cells were less developed, expressed higher levels of fibrotic genes and had mitochondrial misregulation. Authors finally confirmed that the cells were more sensitive to oxidative stress.
So the poison exons should also occur in healthy individuals. Authors performed deep RNAsequencing and indeed found poison exon containing SCNA1A transcripts for intron 1 and intron 22 that contained the location of the intronic variants.
April 22, 2025 at 7:54 AM
So the poison exons should also occur in healthy individuals. Authors performed deep RNAsequencing and indeed found poison exon containing SCNA1A transcripts for intron 1 and intron 22 that contained the location of the intronic variants.
RNAsequencing initially showed reads spanning from exon 44 to exon 45, but is later turned out that in fact this was only 3 nucleotides. As the first 3 nucleotides of intron 44 are the same as exon 45, in fact this was confirming intron 44 (plus insertion) retention.
January 29, 2025 at 8:13 AM
RNAsequencing initially showed reads spanning from exon 44 to exon 45, but is later turned out that in fact this was only 3 nucleotides. As the first 3 nucleotides of intron 44 are the same as exon 45, in fact this was confirming intron 44 (plus insertion) retention.
💡 #ERDERA
Do you know how #RNAsequencing is revolutionising #RareDisease diagnosis? At the RE(ACT) Congress & IRDiRC Conference 2025, Vicente Yépez shared exciting insights on this topic
🔗 Read the full article on the #ERDERA website here: buff.ly/FmxhzwL
🧵 6/8
Do you know how #RNAsequencing is revolutionising #RareDisease diagnosis? At the RE(ACT) Congress & IRDiRC Conference 2025, Vicente Yépez shared exciting insights on this topic
🔗 Read the full article on the #ERDERA website here: buff.ly/FmxhzwL
🧵 6/8
Advancing rare disease diagnosis: Insights from Vicente Yepez at the RE(ACT) Congress and IRDiRC Conference 2025 - ERDERA
The RE(ACT) Congress & IRDiRC Conference 2025, an international platform for knowledge sharing on rare and orphan diseases, has been a catalyst for scientific collaboration and advancement since its i...
buff.ly
April 3, 2025 at 7:29 AM
💡 #ERDERA
Do you know how #RNAsequencing is revolutionising #RareDisease diagnosis? At the RE(ACT) Congress & IRDiRC Conference 2025, Vicente Yépez shared exciting insights on this topic
🔗 Read the full article on the #ERDERA website here: buff.ly/FmxhzwL
🧵 6/8
Do you know how #RNAsequencing is revolutionising #RareDisease diagnosis? At the RE(ACT) Congress & IRDiRC Conference 2025, Vicente Yépez shared exciting insights on this topic
🔗 Read the full article on the #ERDERA website here: buff.ly/FmxhzwL
🧵 6/8
SCI member Sheri Spunt & others found that in a study of 33 pediatric and young adult cancer patients, #RNAsequencing identified potential therapeutic targets for 94% of patients, highlighting RNA sequencing's clinical potential. www.nature.com/articles/s41... #AYACancer #ChildhoodCancer
April 23, 2025 at 4:05 PM
SCI member Sheri Spunt & others found that in a study of 33 pediatric and young adult cancer patients, #RNAsequencing identified potential therapeutic targets for 94% of patients, highlighting RNA sequencing's clinical potential. www.nature.com/articles/s41... #AYACancer #ChildhoodCancer
Meet our new Alliance Fellow Bettina Welz!
For the entire feature head over to our LinkedIn page.
www.linkedin.com/posts/rnaseq...
For the entire feature head over to our LinkedIn page.
www.linkedin.com/posts/rnaseq...
#rnasequencing #healthlifesciencealliance #postdocfellow #researchspotlight #developmentalgenomics #singlecellgenomics #collaboration | Health + Life Science Alliance
Meet our new Alliance Fellow Bettina Welz!
Q: Could you tell us a bit about the work you do? Which field do you work in and who are your PIs?
A: I work in developmental genomics, studying how embryos...
www.linkedin.com
May 27, 2026 at 6:32 AM
Meet our new Alliance Fellow Bettina Welz!
For the entire feature head over to our LinkedIn page.
www.linkedin.com/posts/rnaseq...
For the entire feature head over to our LinkedIn page.
www.linkedin.com/posts/rnaseq...
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