SOPHiA Genetics launches SOPHiA DDM to assist Agilent customers

New bioinformatic workflow advances analysis capabilities for whole-exome assessment and interpretation

SOPHiA Genetics announced they have extended their SOPHiA DDM Universal Whole Exome analytical capabilities to include industry-leading exome SureSelect Human All Exon v8 by Agilent. The new SOPHiA Genetics pipeline is tailored to the unique features of this product to maximize support for Agilent customers in automating their next-generation sequencing (NGS) workflows with enhanced, cutting-edge interpretation tools for germline and cancer applications.

SOPHiA Genetics Universal Whole Exome solution delivers a streamlined end-to-end workflow, from sample to variant report, to advance rare and inherited disease research studies using any exome product. The new SOPHiA DDM for SureSelect Human All Exon v8 is a fully integrated, FASTQ-to-report bioinformatic workflow for whole-exome analysis and interpretation.

The SOPHiA DDM for SureSelect Human All Exon v8 offers:  A complete analytical workflow for reduced turnaround time. Multiple types of variants detection. Tailored analytics for Agilent-specific sample data. Uniform and comprehensive gene coverage. Knowledge sharing across the SOPHiA Community. Improved tertiary analytics and enhanced user experience

The SOPHiA DDM platform supports multiple commercially available exome panels with tailored pipelines and robust analytics for each, enabling uniform coverage of the target region and a streamlined workflow to reduce overall turnaround time and accelerate rare disease characterisation.