This new functionality enables raw sequencing data analysis for Gene Panels (GP), Whole Exome (WES) and Whole Genome (WGS) and it’s currently available for Illumina users that can import and process TB of raw data directly from BaseSpace without upload latencies.

eVai now delivers: 

• variant detection accuracy above 99%;

• award winning variant interpretation leveraging genomic, family and clinical data; 

• short processing time - hours for WES and 4 hours for WGS;

• 100% reproducibility;

• population genomics scalability.

“eVai’s improvements have always been user-centric and this technological advancement that will enable end-to-end analysis is our answer to the requests received. We see that as an important milestone to further drive eVai adoption and make its unique variant interpretation available to a broader audience ”, says Ettore Rizzo, CEO and Co-Founder of the company.

From a technical perspective the workflow performs reads mapping, variant calling and variant filtering. Coverage and Gap analysis are executed and a complete Quality Control report is generated to give a full picture of the analysis executed. The VCF file generated as output is automatically interpreted.