Chapters:
0:00 The clinical side of the company
3:45 Variant calling improved with multi-sample reference genomes
9:30 Scaling genome interpretation
24:22 Addressing the gap in genetic testing
Most of the news coming from Illumina has had to do with their leadership in the sequencing instrument space. What is lesser known is that they offer an end-to-end solution for the clinical lab, including variant calling and genome interpretation.
In this podcast, we’re joined by Sam Strom, Principal Scientist at Illumina and a certified Clinical Lab Director. Sam comes to Illumina from the clinical testing side; for example, he’s co-chair for the expert curation panel for Parkinson’s Disease and sits on a working group at ClinGen.
In the interview, Sam addresses two of the big challenges in clinical sequencing, which are variant calling and variant interpretation. Sam says Illumina has created its own multi-sample genomic reference and is also making use of artificial intelligence to improve variant calling. He also shares how Illumina supports scaling variant interpretation for genomes and other assays with an AI and automation comprehensive solution, enabling high-quality genetic testing workflows to reach next level accessibility.
“I think we’re going to see more “lights out” testing where there really isn’t an interpretation component to the test. It’s a pure technical test. It has certain limitations. But it gets you 99.9% of the way there. The technology is ready."
Illumina Scales Variant Calling and Genome Interpretation to Improve Gap in Genetic Testing with Sam Strom