kishorejaganathan

This is because we did all the scoring in hg19, and the hg38 scores were provided via liftover. When two different positions in hg19 map to the same position in...

Ah, thanks for bringing this to my attention. I accepted all genes which had same number of exons and matching exon lengths between the two annotations. These genes meet that...

Could you give me the variant in VCF format?

The issue is due to the transcript annotations. SpliceAI uses RNA context and not DNA context, and it uses the annotation file to determine which parts of the DNA are...

The annotation file acts like a filter first, so all variants outside TX_START-TX_END will not get annotated regardless of the choice of D (which comes into play much later).

You have two other options to run SpliceAI: - pip install instead of conda install - Just clone the repo and run spliceai/__main__.py If none of those work for your...

Thanks for bringing this to our attention, will update the package with a fix shortly.