Featured Plenary Abstract Session 1

This session highlights cutting-edge research being conducted across the field of human genetics and genomics. This includes examination of natural selection in mosaic chromosomes, meiotic recombination in in vitro fertilized embryos, uniparental disomy in congenital heart disease, long-read sequencing to identify alternative RNA-splicing, the power of combining biobanks together to discover rare variant associations.

Learning Objectives:

1. Summarize the landscape of mosaic chromosomal alterations (mCA’s) across 66,000 individuals from diverse and understudied populations, including how gene expression can reveal evolutionary dynamics of clonal expansion within individuals.
2. State how the use of preimplantation genetic testing (PGT) data from in vitro fertilized (IVF) embryos can elucidate the process of meiotic recombination and its complex genetic architecture.
3. Summarize how uniparental disomy (UPD) events, some of which include variants of uncertain significance (VUS), have been linked to congenital heart disease (CHD) and the related phenotypes observed in zebrafish experiments.
4. Formulate an experiment using a new method, isoLASER, to leverage long-read RNA-seq data to classify splicing events via cis- or trans-directed mechanisms.
5. Generalize findings from rare variant association testing within a global biobank meta-analysis consortium.

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