ACMG Foundation Corporate Partner Insights Session - Illumina Inc: Getting the Most Out of Your Genome
19 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
403 B
Getting the Most Out of Your Genome
Brief Description:
The power of the human genome goes beyond the simple sequence. Innovative tools to augment genome sequencing yield more comprehensive biological insights, uncovering new biological relationships and strengthening variant calling. In this session, we will share how:
Vaidehi Jobanputra, PhD, FACMG, Professor of Pathology and Cell Biology, CUIMC
Kyle Kai-How Farh, MD, PhD, VP & Distinguished Scientist, Illumina Artificial Intelligence Lab
Register here
Brief Description:
The power of the human genome goes beyond the simple sequence. Innovative tools to augment genome sequencing yield more comprehensive biological insights, uncovering new biological relationships and strengthening variant calling. In this session, we will share how:
- Transcriptome sequencing (RNA-seq) assesses the impact of variants of unknown significance on cellular function, reducing uncertainty in variant classification
- AI-powered genomics bioinformatics tools make predictions about genomic variants in both the coding and non-coding regions of the genome, identifying previously overlooked variants and enhancing accurate variant calling
Vaidehi Jobanputra, PhD, FACMG, Professor of Pathology and Cell Biology, CUIMC
Kyle Kai-How Farh, MD, PhD, VP & Distinguished Scientist, Illumina Artificial Intelligence Lab
Register here
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