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.