Meet us at ASHG Annual Meeting 2024
Are you coming to ASHG Annual Meeting 2024 on November 5-9? We'll have a talk by our Chief Scientific Officer Jeffrey Barrett and a poster by our Principal Scientist Luke Jostins-Dean. You can also meet Nightingale team at our booth. Find more information below.
Nightingale Health at ASHG Annual Meeting
Jeffrey Barrett
Presentation: Genetic and metabolomic determinants of disease in the UK Biobank
We will present highlights from metabolomic profiling of all half a million UK Biobank participants. We developed combined polygenic and metabolomic risk scores for 30 chronic diseases and cancers, demonstrating improved predictive accuracy, especially for conditions like myocardial infarction and liver disease, where multi-omic scores outperformed existing clinical scores. Our increased sample size enabled validation in non-European ancestries, detection of early risks for rare diseases, and a large-scale metabolite GWAS, revealing thousands of independent associations with metabolite levels.
Wednesday, November 6, 2024
11:00 a.m.-11:15 a.m.
Room 401
Luke Jostins-Dean
Poster: Metabolomic profiling of the entire UK Biobank enables interpretation of Mendelian and complex disease mutations
We will share our investigation of the impact of pathogenic mutations on human metabolism. Using data from 469,835 UK Biobank participants, we analyzed 76 autosomal dominant diseases, 84 autosomal recessive diseases, and 207 missense variants linked to complex diseases. We identified metabolite associations for 17 diseases, including expected associations like dyslipidemia in familial hypercholesterolemia (FH) and hyperglycemia in monogenic diabetes, as well as novel associations such as reduced fatty acid levels in Noonan Syndrome 1. Our predictive model for FH pathogenic mutations had improved accuracy over LDL and statin use alone, helping identify variants with uncertain significance. This work highlights how integrating exome sequencing with large-scale metabolomics can reveal new mechanisms of metabolic dysregulation and enhance mutation interpretation.
Thursday, November 7, 2024
2:30 p.m.-4:30 p.m.
Exhibit & Poster Hall/Upper Level
Meet our team at booth 322!
You can meet Nightingale team at our booth 322 or book a meeting with us at the event by emailing email hidden; JavaScript is required.
See you at the congress!
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