The Genetics Podcast

Ep 106: The Colliding World of Rare and Common Disease Genetics with Caroline Wright, Professor of Genomic Medicine at Exeter University

Aug 31, 2023
Caroline Wright, leading expert in genomic medicine, discusses the challenges in rare disease diagnosis, uses of population cohorts, potential of newborn screening, and the importance of data sharing. Topics include missense variants, in silico protein structure analysis, ascertainment bias, and promising cohort studies for ultra-rare diseases. Caroline also shares her excitement for new genomics technologies and explores the significance of genetic variants.
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