SNP detection
http://edamontology.org/operation_0484
Find single nucleotide polymorphisms (SNPs) - single nucleotide change in base positions - between sequences. Typically done for sequences from a high-throughput sequencing experiment that differ from a reference genome and which might, especially by reference to population frequency or functional data, indicate a polymorphism.
Synonyms: SNP calling, Single nucleotide polymorphism detection, SNP discovery
Term info
Subsets
operations, edam
Created in
beta12orEarlier
comment
This includes functional SNPs for large-scale genotyping purposes, disease-associated non-synonymous SNPs etc.