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Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases.

Scientific reports - 3 Feb 2024

Yuan Xiao, Su Jieqiong, Wang Jing, Dai Bing, Sun Yanfang, Zhang Keke, Li Yinghua, Chuan Jun, Tang Chunyan, Yu Yan, Gong Qiang

Abstract excerpt

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 singleton mode. With a large-scale family dataset from Deciphering Developmental Disorders (DDD) project (N = 305) and an...

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PMID: 38310124
DOI: 10.1038/s41598-024-53461-x
PMCID: PMC10838329

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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