Sequencing the genome: from genotype to phenotype and a few extras in between

C.E. Credits: P.A.C.E. CE Florida CE
  • Professor of Medicine, Johns Hopkins, University Director of Genomics, GeneSTAR Research program, General Internal Medicine, Miller-Coulson Family Human Aging Project Scholar...


Telomere length (TL) is widely considered a molecular/cellular hallmark of the aging process with implications for multiple diseases. While there has been success in epidemiology and genomewide association studies (GWAS) to understanding telomere biology and genetics, there is a gross under-representation of minority and admixed populations in these efforts, limiting our understanding of health disparities pertaining to diseases related to aging, inflammation, and cellular senescence that are related to TL. High throughput technologies with decreasing sequencing cost per sample has enabled the generation of whole genome sequencing (WGS) at an unprecedented scale with large, well-phenotyped resources of subjects having WGS in epidemiology, precision medicine and biobank endeavors nationally and internationally. With large and well-powered sample sizes, multi-ethnic representation, and WGS data, we have an unprecedented opportunity address critical gaps in TL genetics through NHLBI's Trans-Omics for Precision Medicine (TOPMed) Program on heart, lung, blood, and sleep disorders. Similar to the novel gains in focusing on this ‘functionally relevant’ part of the dynamic human genome, is the added value of calling clonal hematopoiesis from the same genomes, and exploring relationships between the two. This talk will focus on the opportunities from of out-of-the-box and non-traditional approaches to leveraging pre-existing data and the opportunities at scale from large multi-ethnic resources such as TOPMed to bridge major gaps with health disparities research within a Precision Medicine framework.

Learning objectives:

1. Calling variation corresponding to the dynamic genome - CHIP and telomere length

2. The importance of multi-ethnic representation in large Precision Medicine Efforts

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