GuideDiagnostic Laboratory Methods

Variant Calling

Technology that detects differences between an individual's DNA sequence and a reference DNA sequence.

Review and references

Author

National Cancer Institute (source definition)

Reviewer

Automated source check (NCI definition)

Published

2026-10-20

Updated

2026-10-24

Disclaimer

professional use

References

NCI Thesaurus 26.09d — Variant Calling (C188690)
Source: National Cancer Institute, NCI Thesaurus 26.09d, C188690. NCI definition, reproduced without modification under CC BY 4.0.
Small variant calling in the era of long-read sequencing. — Nat Rev Genet, 2026-10-20 (PMID 42902030; literature)
Sub-consensus haploid variant calling in long-read sequencing technology. — PLoS One, 2026-10-05 (PMID 42832612; literature)
kamino: fast proteome-wide variant calling for amino acid phylogenomics. — Mol Biol Evol, 2026-10-01 (PMID 42802937; literature)
ChoCallate: a computational pipeline for consensus germline variant calling in genomic sequencing data. — PeerJ, 2026-09-29 (PMID 42828029; literature)

What it is

Technology that detects differences between an individual's DNA sequence and a reference DNA sequence.

Source: National Cancer Institute, NCI Thesaurus 26.09d, C188690. NCI definition, reproduced without modification under CC BY 4.0.

Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.

Compliance note

Reference intervals and interpretation depend on the laboratory, specimen, method and clinical context. This source definition is educational information; it does not establish a diagnosis, product approval or suitability for an individual.

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