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Sweet! A Metabolic Disorders focused podcast episode

PEMBlog

She is a member of the Clinical Genome Resource Inborn Errors of Metabolism (IEM) Clinical Domain Working Group, where as a biocurator she assesses the pathogenicity of variants in IEM-associated genes to facilitate expedited genetic diagnosis for IEMs. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatr Rev.

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The Promise and Pitfalls of AI in Medicine: Guest Bob Wachter

GeriPal

I remember walking through San Francisco Airport with Bob, we just happened to be there at similar times, and saying, “Eric and I are thinking about starting a blog.” In the ’70s and ’80s, there were a lot of efforts to build AI programs, and the first problem that they tried to tackle was diagnosis.

IT 140