Genetic & Genomic MedicineHuman GenomicsPeer-reviewed
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L. Stenton, Melanie O’Leary, Gabrielle Lemire…·Anne O’Donnell‐Luria
The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.
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