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Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.

BMC Genomics · 2017 · PMC5558188 · PMID 28812538

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an overall trendno p-value reported
We see that, apart from an overall trend towards lower success rates, the results are comparable to those obtained for VS228: specific predictors tend to outperform reference predictors and, as the performance of the latter improves, the difference between approaches decreases.

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