Ontology highlight
ABSTRACT:
SUBMITTER: Pajuste FD
PROVIDER: S-EPMC5451431 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Pajuste Fanny-Dhelia FD Kaplinski Lauris L Möls Märt M Puurand Tarmo T Lepamets Maarja M Remm Maido M
Scientific reports 20170531 1
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 genotypes of the Illumina HumanOmniExpress is 99.82%. Our method provides k-mer database ...[more]