Featured Plenary Abstract Session 2

This session highlights high scale profiling efforts using different experimental platforms and in different disease settings. This includes heritability analysis in environmental risk and air pollution, methylome and omics (GWAS, TWAS, PWAS) analysis in cancer, global profiling of Cas9 editing sites, and transcriptomics in rare disease.

Learning Objectives:
1. Evaluate several novel strategies for jointly modeling genetic and environmental effects on disease risk using large EHR datasets.
2. Examine how early methylation changes occur and how they interact with other epigenomic shifts.
3. Identify critical pathways in endometriosis pathogenesis using omics approaches.
4. Apply a new sequencing method for targeted pooled and in vivo ribonucleoprotein CRISPR screens in hard-to-transduce cell types and detection of off-target perturbations.
5. Judge a transcriptomics-first method to diagnose rare disease patients by examining transcriptome-wide patterns of minor intron retention events.

Please note: This item is only available as part of the ASHG 2024 Annual Meeting Digital Pass.