melnel000

Results 7 comments of melnel000

My bam file was generated using BWA-mem aligning to hg38 with alt contigs. I have tried to preprocess my bam files using the script get-reads-alt-unmap.sh so that I can run...

I am also having the same problem. I picked this up because I tried to convert the BAMs generated by vg surject to CRAMs which gives the following error using...

Thanks for the feedback. I also have BAM files generated with BWA. Here the header contains 1 \@ HD line, followed by multiple \@ SQ lines, then 1 \@ RG...

Thanks ClinSV for sharing this pipeline. I am about to try it out but I also need to uncompress my CRAM files to BAM so CRAM support would be a...

@HudoGriz yes, I could run on the bam files without issues and some of these were converted using samtools.

After posting this, I found an equivalent MONDO ID which describes the DHDDS-related syndrome I proposed above: http://purl.obolibrary.org/obo/MONDO_1040031 (dyneinopathy). Should I use the "dyneinopathy" term and definition as is or...

Noted! Thanks, that was an error on my part. Got muddled with some look-ups. Will await the new DHDDS term.