For the complete documentation index, see llms.txt. This page is also available as Markdown.
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Illumina FFPE DNA Prep with Exome 2.5 Enrichment

llumina FFPE DNA Prep with Exome 2.5 Enrichment is part of an integrated whole-exome sequencing (WES) Tumor-Normal workflow to deliver variant calling and biomarker analysis in low-input formalin-fixed paraffin-embedded (FFPE) samples. This page provides software user guides to Illumina's cloud-based and on-premise solutions for the data analysis of this library preparation kit.

The software performs the following workflows to analyze sequencing data.

  • DNA Mapping and Aligning

  • Somatic Small Variant (SNV) Caller

  • Copy Number Variant (CNV) Caller

  • Tumor Mutational Burden (TMB)

  • Microsatellite Instability (MSI)

  • Homologous Recombination Deficiency (HRD)

  • Variant annotation

Structural Variant (SV) caller results have not been evaluated for accuracy. Calculations for SV can add significant runtime to the analysis.

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