Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
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Stenton SL, et al. Among authors: shen y.
medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212.
medRxiv. 2023.
PMID: 37577678
Free PMC article.
Updated.
Preprint.