Abstract:
: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 that can be used for the simultaneous genotyping of approximately 30 million single nucleotide variants (SNVs), including >23,000 SNVs from Y chromosome. The source code of FastGT software is available at GitHub (https://github.com/bioinfo-ut/GenomeTester4/).
journal_name
Sci Repjournal_title
Scientific reportsauthors
Pajuste FD,Kaplinski L,Möls M,Puurand T,Lepamets M,Remm Mdoi
10.1038/s41598-017-02487-5subject
Has Abstractpub_date
2017-05-31 00:00:00pages
2537issue
1issn
2045-2322pii
10.1038/s41598-017-02487-5journal_volume
7pub_type
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