Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
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| Abstract |
Model methodology and performance was highly variable. Models weighing call quality, allele frequency, predicted deleteriousness, segregation, and phenotype were effective in identifying causal variants, and models open to phenotype expansion and non-coding variants were able to capture more difficult diagnoses and discover new diagnoses. Overall, computational models can significantly aid variant prioritization. For use in diagnostics, detailed review and conservative assessment of prioritized variants against established criteria is needed. |
| Year of Publication |
2024
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| Journal |
Human Genomics
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| URL |
https://doi.org/10.1186/s40246-024-00604-w
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| DOI |
https://doi.org/10.1186/s40246-024-00604-w
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