Variant calling
http://edamontology.org/operation_3227
Detect, identify and map mutations, such as single nucleotide polymorphisms, short indels and structural variants, in multiple DNA sequences. Typically the alignment and comparison of the fluorescent traces produced by DNA sequencing hardware, to study genomic alterations.
Synonyms: Germ line variant calling, Exome variant detection, Mutation detection, Genome variant detection, de novo mutation detection, Allele calling, Somatic variant calling, Variant mapping
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operations, edam
Created in
1.1
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Methods often utilise a database of aligned reads., Somatic variant calling is the detection of variations established in somatic cells and hence not inherited as a germ line variant., Variant detection