White paper

Efficient genomic variant prioritisation with SeqOne DiagAI

Supporting WES/WGS based clinical diagnosis with a variant-prioritization AI engine

Rare diseases affect around 1 in 20 individuals, and 70% of them are caused by genetic disorders. With 20 000 to 50 000 variants identified per patient, powerful tools and expertise are critical to drill down to the candidate genetic alterations. However, after reducing the final number of variants, including non-synonymous variants to a few hundreds, the interpretation of WES and WGS data remains difficult and time-consuming.

This is a real challenge for the labs that need to maintain turnaround time acceptable and adequate staffing of specialized laboratory technologists. Diagnostic laboratories need efficient tools to support data cleaning automation and manual data interpretation along their diagnostic journeys.

To improve the diagnostic experience of healthcare providers involved in interpreting large-scale exome and genome data, we have developed SeqOne DiagAI, a complete suite of AI-driven modules at all steps of the process – Filtering and Interpreting. Here we present the SeqOne DiagAI prioritization engine and its clinical evaluation based on a nephrology cohort of 1012 exomes.

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