< Back to Article

Genome Modeling System: A Knowledge Management Platform for Genomics

Fig 3

Somatic variation processing profile and workflow.

To illustrate key GMS concepts, the processing profiles and workflow for the somatic variation pipeline are shown. Abbreviations: copy number variant (CNV), copy number amplification (CNA), genome analysis tool kit (GATK), insertion/deletion (Indel), loss of heterozygosity (LOH), mapping quality (MQ), single nucleotide variant (SNV), structural variant (SV), variant allele frequency (VAF).

Fig 3