Addition of RNA analysis
- What it does: The pipeline now takes RNA FASTQ, panel and genome files as input, runs the analysis pipeline and provides the output files with gene expression data.
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Key Highlights:
- Ability to analyze gene expression data.
- RNA data is available in the HTML reports and h5 files.
Use of the Sentieon’s DNAScope algorithm for variant calling
- What it does: DNAScope is one of Sentieon’s variant calling algorithms that replaces the existing Haplotyper algorithm in the Tapestri Pipeline. It has improved active region detection and local de-novo assembly steps.
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Key Highlights:
- Better variant calling sensitivity and accuracy.
- Better recovery of missing variant calls, especially for long indel variants.
Updated assay merging logic
- Retains all DNA cells when merging DNA with other analytes. Previous versions of the pipeline would drop DNA-called cells when the protein assay did not have the corresponding barcode, leading to a low cell count. Henceforth, all DNA-called cells will be available in the h5 file for analysis.