SOPHiA Genetics partners with Microsoft and NVIDIA for genome sequencing

The whole genome sequencing solution analyses genomic data, alongside other data to provide drug and disease insights.

Phalguni Deswal May 30 2024

US-based health technology company Sophia Genetics has partnered with Microsoft and NVIDIA to leverage their expertise in technology and genomics to launch a whole genome sequencing (WGS) analytical solution.

The genome sequencing solution is expected to be available by the end of the year and will be hosted on Microsoft Azure and powered by NVIDIA’s scalable genomics analysis software suite, Parabricks.

The whole genome sequencing analytical solution uses the SOPHiA DDM, an AI and cloud-based software-as-a-service platform. The technology analyses genomic data along with other pertinent data points, including diagnostic details, imaging, pathology, and medical assessments, to provide more actionable disease and drug insights.

"By leveraging the powerful technologies and capabilities offered by Microsoft Azure and NVIDIA, we are working to provide accurate, scalable, and rapid insights across multiple modalities, helping benefit our customers and, ultimately, patients, particularly those living with rare inherited disorders," said Abhimanyu Verma, SOPHiA GENETICS’s chief technology officer.

"We are confident our new WGS application will help provide an answer to existing customer needs and expedite research, diagnosis and treatment planning worldwide."

The use of AI to expedite data analysis as part of drug discovery has been an area of interest in recent years. GlobalData forecasts AI to be a key driver of medical device innovation. The AI market generated approximately $93bn in sales last year, as per GlobalData analysis.

NVIDIA has been a major collaborator in this trend and has announced multiple drug discovery deals with pharmaceutical companies. Earlier this year, the company partnered with Amgen to build AI models to analyse human datasets for drug targets and biomarker discovery, facilitating diagnostics for disease progression and regression.

In March, NVIDIA collaborated with Microsoft to merge Azure’s global reach and advanced expertise with NVIDIA’s DGX Cloud and Clara computing platforms to spur innovation and improve patient outcomes. The partnership aims to bolster clinical research and care delivery using imaging-based AI diagnostic technology through Microsoft and NVIDIA’s platforms.

In February, SOPHiA partnered with AstraZeneca to expand homologous recombination deficiency testing for ovarian cancer across Spain. The company had also partnered with GE HealthCare to enable personalised treatment for cancer patients.

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