Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases

Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases

Abstract Phenotype-guided gene prioritizers have proved a highly efficient approach to identifying causal genes for Mendelian diseases. In our previous study, we preliminarily evaluated the performance of ten prioritizers. However, all the selected software was run based on default settings and sing...

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Bibliographic Details
Main Authors:	Xiao Yuan, Jieqiong Su, Jing Wang, Bing Dai, Yanfang Sun, Keke Zhang, Yinghua Li, Jun Chuan, Chunyan Tang, Yan Yu, Qiang Gong
Format:	Article
Language:	English
Published:	Nature Portfolio 2024-02-01
Series:	Scientific Reports
Online Access:	https://doi.org/10.1038/s41598-024-53461-x

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