Variant Calling and Annotation

Single-sample or multi-sample variant callings are processes by which single nucleotide variants (SNVs), copy number variants (CNVs), insertions and deletion (INDELS) from DNA sequence data are identified after successful alignment to a reference genome. Variant callings can also detect somatic DNA mutations in cancer cells. The annotation process predicts the effect of identified variants on overlapping protein coding genes as a result of amino acid changes.