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Article

FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads.

Scientific reports - 31 May 2017

Pajuste Fanny-Dhelia, Kaplinski Lauris, Möls Märt, Puurand Tarmo, Lepamets Maarja, Remm Maido

Abstract excerpt

We have developed a computational method that counts the frequencies of unique k-mers in FASTQ-formatted genome data and uses this information to infer the genotypes of known variants. FastGT can detect the variants in a 30x genome in less than 1 hour using ordinary low-cost server hardware. The overall concordance with the genotypes of two Illumina "Platinum" genomes is 99.96%, and the concordance with the...

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Identifiers

PMID: 28566690
DOI: 10.1038/s41598-017-02487-5
PMCID: PMC5451431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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