FIELD: biotechnology.
SUBSTANCE: method of processing data (pipeplan) for whole-genome sequencing is described. Raw reads are aligned to the reference genome. The reads are trimmed with the fastp tool and streamed into the minimap2 mapper, from where the data is also streamed into the samatools tool, which marks duplicates and indexes the resulting bam file. The resulting bam file is recalibrated according to the quality metrics provided by the sequencer. Acceleration of quality control of initial data execution is assessed based on the results of trimming, read mapping and SNP/INDELS collating.
EFFECT: invention provides increased functionality for analyzing data from the entire human genome while reducing the time to obtain genetic analysis results ready for interpretation and allows for the analysis of germinal samples with an average coverage of 30x from a set of raw reads to results ready for analysis by a clinical interpreter.
1 cl, 7 dwg
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