Biobank Scale Genetic Data Resources for Studying Complex and Rare Human Diseases

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Biobank scale genetic data resources for studying complex and rare human diseases are introduced in this session, including 100K Genomes of Europe, UAE Genome Program with 43K individuals, Structural variants from the All of US Research Program, and a complete telomere-to-telomere reference pnael of 6K human haplotypes. Updates about diversity in the NHGRI-EBI GWAS Catalog will be shared. A web resource of Mondo harmonizes the world's rare disease knowledge, which will help rare disease diagnosis.

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

Freida Blostein, PhD (Moderator)

Postdoctoral Fellow

Vanderbilt University Medical Center

Xuanyao Liu, PhD (Moderator)

Principal Investigator

Liu Lab

Anthony Herzig

Chargeé de Recherche

Inserm

Michael Olbrich, PhD

Postdoctoral Fellow

Khalifa University Biotechnology Center

Emma Pierce-Hoffman, B.S.

Senior Computational Associate in the Talkowski Lab

Broad Institute of MIT and Harvard

Joseph Lalli, BA

MD/PhD Student at the Dr. Donna Werling Lab

University of Wisconsin-Madison

Maria Cerezo, PhD

Biocurator and Outreach Officer

GWAS Catalog, EMBL-EBI

Jonathan Berg, MD, PhD

Professor, Department of Genetics

UNC Chapel Hill

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