2019 Year-End Bundles

Most annotations tend to exploit a single information type (e.g., conservation) and are restricted in scope (e.g., to missense changes). CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.

OMIM is a comprehensive database of human genes and genetic phenotypes for all known mendelian disorders and over 15,000 genes.

Bundles Remaining:

These bundles were reserved quickly, so add your name to our waitlist to reserve your SVS bundle when more become available.

Are you working with different SNP arrays? Alternatively, do you have historical SNP array data that you need to combine with modern SNP array outputs? In this case, you could use our imputation capabilities within SVS to conduct a meta-analysis on data based on different SNP arrays with varying resolutions.

Most annotations tend to exploit a single information type (e.g., conservation) and are restricted in scope (e.g., to missense changes). CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.

OMIM is a comprehensive database of human genes and genetic phenotypes for all known mendelian disorders and over 15,000 genes.

Bundles Remaining:

A complete solution for labs to take any clinical interpretation from FASTQ to report while complying with applicable ACMG guidelines. This package also provides a lab the capability to conduct a thorough CNV analysis within an NGS sample. All findings are captured in a clinical report that can be generated with a single mouse click.

Bundles Remaining:

These bundles were reserved quickly, so add your name to our waitlist to reserve your SVS bundle when more become available.

This bundle is our solution for the interpretation of somatic variants in accordance with the AMP guidelines, as well as ACMG guidelines for germline. Included with our AMP Workflow is the professionally curated Golden Helix CancerKB to jump-start your clinical report.

Bundles Remaining:

These bundles were reserved quickly, so add your name to our waitlist to reserve your SVS bundle when more become available.

A complete solution for labs to take any clinical interpretation from FASTQ to report while complying with applicable ACMG and AMP guidelines. This package also provides a lab the capability to conduct a thorough CNV analysis within an NGS sample. All findings are captured in a clinical report that can be generated with a single mouse click. Included with our AMP Workflow is the professionally curated Golden Helix CancerKB to jump-start your clinical report.

Bundles Remaining:

These bundles were reserved quickly, so add your name to our waitlist to reserve your SVS bundle when more become available.

The perfect package for small clinical labs. It has all the capabilities discussed in the VSClinical, CNV & Sentieon Package (see above). In addition, the VSWarehouse allows a lab to query efficiently if a variant has been seen before. It gives a lab the option to build powerful assessment catalogs to standardize the clinical variant interpretation across any number of analysts within a lab. It provides a lab with the ability to share variants with other collaborators.

Bundles Remaining:

The ultimate package for clinical labs. It has all the capabilities discussed in the VSClinical, CNV & Sentieon Package (see above). In addition, the VSWarehouse allows a lab to query efficiently if a variant has been seen before. It gives a lab the option to build powerful assessment catalogs to standardize the clinical variant interpretation across any number of analysts within a lab. It provides a lab with the ability to share variants with other collaborators. VSPipeline enables bioinformatic cores to automate the entire tertiary analysis process to achieve higher throughput.

Bundles Remaining: