Featured Plenary Abstract Session 3

This session will be of interest to researchers and clinicians interested in learning about novel techniques to link large ancient DNA and modern datasets, and a novel technique for resolution of CNVs in complex regions of the genome that had previously been inaccessible. Attendees will then transition from basic science to clinical implementation through talks on how caQTL may help identify a layer of immune response regulation and enhance the prediction of complex disease risk, how genetic variation influences healthcare expenditure. The session will conclude with the results of a prospective pilot study to evaluate sequencing of a targeted set of genes for newborn screening in a diverse population.

Learning Objectives:
1. Recognize the genetic contribution to healthcare cost and poor health.
2. Illustrate a new computational tool for inferring genealogical relationships in modern and ancient DNA.
3. Resolving the remaining dark regions of the human genome.
4. Investigate the opportunities, challenges, and feasibility of DNA sequencing-based newborn screening.
5. Assess the contribution of chromatin accessibility differences to transcriptional immune variation across healthy individuals

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