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"Illumina Scales Variant Calling and Genome Interpretation to Improve Gaps in Genetic Testing"

In this podcast, Mendelspod’s Theral Timpson is joined by Sam Strom, a principal scientist at Illumina with a background in clinical testing. Among other activities, Sam is the co-chair for the expert curation panel for Parkinson’s disease and 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,” he says. “It’s a pure technical test. It has certain limitations. But it gets you 99.9 percent of the way there. The technology is ready."

Offered Free by: Illumina
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