Variant Calling
Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications.
Source record
Citations copied verbatim from the method’s source record. No claim-level verification is inferred from them.
- McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303. · DOI 10.1101/gr.107524.110
- Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., ... & Durbin, R. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25(16), 2078–2079. · DOI 10.1093/bioinformatics/btp352
Curated claims
Claims persisted in the evidence ledger, each with its own assessment.
This view does not invent a claim assessment when the ledger has none.
Related methods
Generated from the method graph and shown as machine-suggested relations — no evidence claim is inferred.