pandora_lib_promethion

Install

Dependencies

For building required HTSlib:

sudo apt install cmake libclang-dev

• minimap2
• (samtools)[https://www.htslib.org/download/]
• (dorado)[https://github.com/nanoporetech/dorado]
• (bcftools)[https://www.htslib.org/download/]
• (modkit)[https://github.com/nanoporetech/modkit]
• VEP: cf pandora_lib_variants for VEP install
• nanomonsv (cf dependencies at github, TODO: use racon)

Usage

Use jq for selecting variants

• Somatic Variants of chrM (25)

  zcat /data/longreads_basic_pipe/*/diag/somatic_variants.json.gz | \
  jq -L ./jq_filters -C 'include "jq_variants"; [.data[] | select(contig("chrM") and n_in_constit <= 1) | format]'
  

Using jq and find to look for chrM norm coverage

find /data/longreads_basic_pipe/ -name "*_diag_hs1_info.json" -type f -exec sh -c 'basename $(dirname $(dirname "{}")) | tr -d "\n"' \; -printf "\t" -exec jq -L ./jq_filters -r 'include "jq_bam"; contig_coverage("chrM")' {} \;