ӳ��ý

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Stenton SL, O’Leary MC, Lemire G, et al. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project. Human genomics. 2024;18(1):44. doi:10.1186/s40246-024-00604-w

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Stenton SL, O’Leary M, Lemire G, et al. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.08.02.23293212

An Atlas of Variant Effects to understand the genome at nucleotide resolution.

Fowler DM, Adams DJ, Gloyn AL, et al. An Atlas of Variant Effects to understand the genome at nucleotide resolution. Genome biology. 2023;24(1):147. doi:10.1186/s13059-023-02986-x