Tertiary data analysis software for reporting germline and/or somatic genetic variants and biomarkers

Description du marché

The software must be able to support analysis of SNVs, indels, copy number variations (CNVs), structural variations (SVs) and regions of loss of heterozygosity (LOH). Specifically for somatic analysis, requirements also include reporting of gene fusions, microsatellite instability (MSI), homologous recombination deficiency (HRD), and tumor mutation burden (TMB). Tests are based on analysis of nucleic acids (DNA and/or RNA) extracted from patient tissue or blood samples using next generation sequencing (NGS) on either Ion Torrent or Illumina sequencers as well as array CGH based data (ISCA v2 array, Agilent Technologies), where applicable.

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