About this episode

This episode recaps the ACMG conference, discussing advancements in genomic sequencing and the role of AI in enhancing equity in genomic testing.

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing. Our episode is broken into three segments… Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and…

People in this episode

Host: Kira Dineen

Guests: Dr. Christine Eng, Chris Sands, Talia Silver, Dr. Livia Loureiro, Carrie Horton, Dr. Seth Berger

Topics covered

• genome sequencing
• AI in genomics
• equity in genomic testing
• optical genome mapping
• long-read sequencing
• RNA sequencing

Mentioned in this episode

Organizations: Baylor Genetics, Illumina, Ambry Genetics

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