Data type flexibility
NGS data upload from gene panels to genomes incl. FASTQ, BAM, VCF.
Clinical Sequence Analyzer (CSA) allows users to quickly identify clinically-relevant phenotype-associated genes and variants from individual patients to complex families. Our novel data structure is engineered for both clinical diagnosis and research projects, and can scale with the massive data volumes from whole genome and whole exome sequence data.
Hear the journey of a six year old male with dysmorphic features, developmental delays, and speech regression from initial presentation to final diagnosis.Learn More
In this special series on the What's Trending in Genomics, CEO Rob Brainin shares insights and expertise from our colleagues around the globe to spotlight the most important trends in genomics.Learn More