Sentieon DNAscope and LongReadSV support variant calling with multiple short and long-read sequencing platforms. For each of these platforms, Sentieon provides model files that can be used to improve variant calling accuracy by accounting for platform-specific bias in the sequencing data.
In this README, we provide links to the most recent versions of the DNAscope and LongReadSV model files for each platform. This information can also be accessed programmatically from the sentieon_models.yaml file in this repository.
DNAscope and LongReadSV are available as part of the Sentieon software package and the model files listed below require a valid license for use. Please contact [email protected] for access to the Sentieon software and an evaluation license.
Model bundles package multiple models into a single file. Bundles use the ar archive format and the contents of the bundle file can be listed using the command ar t <bundle>.
Sentieon's appnote on DNAscope for short-reads - A document with detailed usage information for the Sentieon short-read pipeline.
Sentieon's appnote on DNAscope LongRead - A document with detailed usage information for the Sentieon long-read pipeline.
Sentieon's appnote on LongReadSV - A document with detailed usage information for the Sentieon LongReadSV tool.
DNAscope: High accuracy small variant calling using machine learning - A preprint describing DNAscope's methodology, using the DNAscope model for Illumina reads.
Sentieon DNAscope LongRead – A highly Accurate, Fast, and Efficient Pipeline for Germline Variant Calling from PacBio HiFi reads - A preprint describing the DNAscope pipeline for calling variants from PacBio HiFi data.
Advanced Whole Genome Sequencing Using an Entirely PCR-free Massively Parallel Sequencing Workflow - A preprint describing the adaptation of DNAscope for sequencing data produced by sequencing platforms from MGI/Complete Genomics.
Sequencing by avidity enables high accuracy with low reagent consumption - A preprint presenting the Element Biosciences sequencing platform. The preprint uses Sentieon's DNAscope model for Element Biosciences for variant calling.