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Revisiting benchmark study for response to methodological critiques of 'Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases'.

Briefings in bioinformatics - 20 Sept 2022

Yuan Xiao, Zhang Peng

Abstract excerpt

Evaluation of phenotype-driven gene prioritization approaches for Mendelian diseases could facilitate the software development and method selection for the workflow configuration and clinical practice. In our original article, the performance of 10 well-recognized causal-gene prioritization methods was benchmarked using 305 cases from the deciphering developmental disorders (DDD) project and 209 in-house cases...

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PMID: 35514206
DOI: 10.1093/bib/bbac181

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