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: rizzo e.
Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w.
Hum Genomics. 2024.
PMID: 38685113
Free PMC article.
