Ramiro Barrantes Reynolds
08/27/2024, 4:29 PMnextflow run nf-core/sarek -r 3.4.2 -profile singularity --input ${sampleSheet} --outdir ${outDir} --tools mutect2,strelka,vep --genome GATK.GRCh38
But in the multiQC mosdepth graph I don't see the regular chromosomes??Thomas Danhorn
08/27/2024, 6:03 PMGATK.GRCh38 assembly contains thousands of contigs (not dozens), most of them decoys. You can see on the left chr1, I think that is a "representative" for all the canonical chromosomes (plus likely more contigs). If you could "zoom in", you would see all the separate ones.
I am not sure how Mosdepth interacts with the intervals file, but that should actually remove most/all of the noncanonical chromosomes (there is a "default" one from GATK, designed for WGS, which removes centromers/telomers. etc., and if you have WES [use --wes] you need to specify your [padded] targets file) ...Ramiro Barrantes Reynolds
08/27/2024, 6:16 PM