Ben Weisburd
Ben Weisburd
Fixed. Why not download the GTF from gencode?
You fixed the 1st issue (by unzipping the file). What other error are you seeing?
Thanks Tom! and sorry I somehow missed that docs page. I think the change you made is a good one. Making the read background color lighter and flatter (ie. without...
An even more informative visualization would segment the repeats by constituent motifs - like this plot from Mahreen Khan's poster at ASHG:
Have these new models been published and shown to improve splicing prediction accuracy and/or variant interpretation? Secondary structure prediction is interesting, but AFAIK it's importance would be difficult to interpret...
We are unlikely to add models until they're published (along with benchmarks) and gain some traction in the community. Also, in the SpliceAI paper, the reported AUPRC is 0.98, so...
Interesting. I was not aware of DeltaSplice. What are the other published models?
Interesting question. From what I can tell, these examples show how the SpliceAI model can be very sensitive to the exact position of the variant (even when two variants at...
Are you running pangolin using gene annotations that are equivalent to this Gencode v46 transcript definition? (PALB2 ( [ENSG00000083093.12_17](https://useast.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083093) / [ENST00000697383.1_3](https://useast.ensembl.org/Homo_sapiens/Transcript/Summary?t=ENST00000697383) / [NM_001407314.1](https://www.ncbi.nlm.nih.gov/search/all/?term=NM_001407314.1)) Also, which pangolin version are you using?
Hi @RChanColor thank for reporting this issue and sorry about the slow response. I haven't been able to track down why the server generated a pangolin ∆score = -0.50 for...