Data analysis

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Sequencing data analysis

With the Novaseq X Plus, we will provide primary data análisis (BCL and fastQ file) and offer as service secondary data analysis using DRAGEN server.

The pipelines included are:

  • Germline/somatic pipeline- DRAGEN generates pipeline-specific metrics coverage reports with the mapping and aligning metrics, VCF metrics, duration (or run time) metrics and coverage (or enrichment) metrics and reports. DRAGEN also provides a post-VCF variant filtered based on annotations present in the VCF records. Also a genomic VCF (gVCF) file containing information on variants and positions determined to be homozygous to the reference genome is provided. Optionally, the DRAGEN CNV Software generates many intermediate files. A final call file that contains the amplification and deletion events (*.seg.called.merged)  is provided. In addition to the segment file, DRAGEN emits the calls in the standard VCF format.
  • Methylation pipeline- DRAGEN Methylation Pipeline generate a CRAM with the tags required for methylation analysis and reports detailing the locations with methylated cytosines.

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