Article

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

2016-06-28

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 1 is 99.96%, and the concordance with the g...

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Literature Corpus work: 0b005def-bda0-541b-a5b5-1883919ab677
DOI: 10.1101/060822

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