GENOS.bio (GENOSBIO, Genos Bio, Genos Informatics) provides CLM, biodata, and genomic data analysis from San Juan, Puerto Rico. Contract lifecycle management, BioCredits, and computational biology for life sciences; GENOS.pr is the Puerto Rico network front door.

Variant Calling

The bioinformatics process of identifying variants (SNPs, indels, etc.) by comparing sequenced DNA to a reference genome. Produces a VCF file listing discovered variants.

Example in a sentence

Variant calling was run with GATK on the BAM files.

Key facts

  • Input: aligned reads (BAM); output: VCF.
  • Germline and somatic callers differ.

Category: Genetics & Variation

Authoritative references

Related terms

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Variant Calling | Bioinformatics Glossary | GENOS.bio