To increase the precision and flexibility of the variant calling and variant interpretation step, potential "metadata factors" for the preprocessing and postprocessing routines could be included into the workflow by extending the input datasheet csv:
Preprocessing:
Assessment of tumor cellularity based on pathologist review or in-silico calculation for allelele frequency correction
Method of sample acquisition for QC routines (Fresh Frozen vs. FFPE)
Tumor entitity (for potential subselection of relevant genomic regions with increased sensitivity during variant calling or the incorporation of whitelists/blacklists)
Postprocessing:
Ethnicity background (if applicable) for population database soft-filter routines (f.e. gnomAD subpopulation frequencies) of SNPs
The list of relevant metadata is extendable and not fixed.
Description of feature
To increase the precision and flexibility of the variant calling and variant interpretation step, potential "metadata factors" for the preprocessing and postprocessing routines could be included into the workflow by extending the input datasheet csv:
Preprocessing:
Postprocessing:
The list of relevant metadata is extendable and not fixed.