For Commercial and Institutional Users

Full Suite of End-to-End Tools for Secondary Analysis,
Customized Interpretation, and Reporting

Features Include:

FastQ Analysis (WGS, WES) Trinucleotide Repeats, UPDs, and Spinal Muscular Atrophy
RNA Transcriptome Analysis Manual Filtering of Variants
Long-Read Sequencing Analysis Customizable Clinical Reports

API Integration for Variant Literature Interpreter
and Automated ACMG Classifier

For International Customers

Certain countries restrict the transmission of patient data outside of their borders and with this in mind, Breakthrough Genomics offers a 'No Data Sharing Option' where customers can access the platform's powerful features including the Variant Literature Interpreter and the Automated ACMG Evidence Presentation through an easy-to-install API to integrate these functions within existing workflows.