Projects

Updated 9 months ago

Data management of large-scale whole-genome sequence variant calls using GDS files (Development version only)

bioinformatics gds-format r snp snv wes wgs

Updated 9 months ago

Call and score variants from WGS/WES of rare disease patients.

diagnostics nextflow nf-core pipeline rare-disease snv structural-variants variant-annotation variant-calling wes wgs workflow

Updated 9 months ago

a Nextflow SNV calling and annotation pipeline based on DKFZ-ODCF/SNVCallingWorkflow

dkfz ghga odcf snv snv-annotation snv-call somatic-mutations somatic-variants

Updated 9 months ago

Identifies multiple SNVs within the same codon, reclassifies them as MNVs, and accurately computes resulting amino acid changes from genomic reads

annotation bam mnv rust snp snv vcf

ecosyste.ms