search

genomic-medicine-sweden / nallo

A long-read (PacBio and ONT) analysis pipeline written in Nextflow
MIT License
11 stars 3 forks source link

Update spliceAI regions to overlap pipeline testdata regions #326

Open fellen31 opened 1 month ago

fellen31 commented 1 month ago

Description of feature

spliceai_21_scores_raw_snv_-v1.3-.vcf.gz contains scores for chr21, and not those overlapping the testdata.

fellen31 commented 1 month ago

Full files here: https://basespace.illumina.com/analyses/194103939/files?projectId=66029966