Application Note # 1 - High Accuracy Variant Calling
CompStor Novos® variant calling well exceeds standard open source solutions
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RESOURCES
CompStor Novos®
Genomic Secondary Analysis Appliance
Below is a listing of CompStor Novos® resources. Please feel free to click and download any or all of the items listed. If you have questions regarding any of these materials please CLICK HERE and we will get back to you as soon as possible.
Videos
CompStor Novos® Demux feature (for Illumina sequencing)
See how to create demux fastq files at multi terabyte scale, from Illumina generated .bcl files.
de novo assembly (for Illumina and BGI)
See how to perform de novo assembly on Illumina, BGI and Pac Bio sequencers to product .fa contig files.
Germline alignment-based variant calling (for Illumina and BGI sequencing)
See how to perform alignment based WGS or WES germline variants from NGS sequencing fastq data. Select from variant outputs from a GATK variant caller or OmniTier’s proprietary Novos variant caller, structural variants (SV) or copy number variants (CNV).
Germline assembly-based variant calling (for Illumina and BGI sequencing)
See how by using assembly on NGS sequencing fastq data you can obtain hundreds or thousands more WGS or WES variants than obtained using alignment based variant calling. Variant caller options include either GATK or OmniTier’s proprietary Novos variant caller.
PacBio processing
See how to generate a ccs fastq file from a PacBio .subreads.bam file, using either a PacBio style CCS function or OmniTier’s much faster, CompStor CCS function.
Somatic alignment-based variant calling (for Illumina and BGI sequencing)
See how to generate somatic variants from NGS tumor normal data. Variant caller options include either GATK or OmniTier’s proprietary Novos variant caller, or structural variants.
Documents & White Papers
Application Note # 2 - precisionFDA Winning Accuracy Results
CompStor Novos® surpasses commercial solutions in the precisionFDA Truth Challenge