Mendelspod Podcast Theral Timpson

In today’s show, we talk with Kyle Fahr, the VP and Distinguished Scientist leading Illumina’s Artificial Intelligence Lab.
"We lack a way of training genomics AI as readily as you would for natural language processing, says Fahr.  "There are vast amounts of data, but there are no labels, no supervision.  One of the most powerful tools that we’ve found is using clues from natural selection.
Fahr says the company began the AI lab seven years ago when deep learning took off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics to become widely used by clinical labs and researchers in interpreting variants of unknown significance.  
We take a close look at Illumina’s work in AI and delve into the long-term impact of AI on genomics.


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Today, we continue our look into the gap in the adoption of precision medicine. Why are those who need it not getting genetic testing? Patrick Short is the Host of The Genetics Podcast and CEO and Co-founder of Sano Genetics.

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Through its Center for Personalized Medicine, the University of Colorado Health offers its 2.2 million patients some of the country's most advanced precision medicine initiatives.

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A  new spatial biology company is promising to shake up the field. Last month, Curio Bioscience launched a new technology to early access customers that provides transcriptomic spatial data without the need to b…

John Cumbers is back on the show to preview the annual SynBioBeta, the leading global conference for the synthetic biology crowd. This year’s show includes 18 tracks on AI, space, longevity, and DNA synthesis. Speakers will include Stephen Wolfram and Stephen Quake, who will discuss large language models and biology.
While 2024 saw a total investment of over $6 billion (not as high as the pandemic year of 2021), John says the new technologies and startups keep coming.
"We’re seeing just a ton of new entrepreneurs coming out of graduate and undergraduate programs and starting companies.”
John is the founder and CEO of SynBioBeta which takes place May 6-9th in the San Jose Convention Center.


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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."


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