How to proceed after a "negative" exome
A superlative trio, Dr Machteld Oud, Dr Clara van…
An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "How to proceed after a "negative" exome" was published on February 29, 2024 and runs 23 minutes.
February 29, 2024 ·23m · JIMD Podcasts
Summary
A superlative trio, Dr Machteld Oud, Dr Clara van Karnebeek and Dr Saskia Wortmann join the podcast to explain the importance of diagnostics, why all exomes aren't equal and just how should you proceed after a 'negative' exome. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques Saskia B. Wortmann, et al https://doi.org/10.1002/jimd.12507
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