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Article

diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype.

Bioinformatics (Oxford, England) - 2 Sept 2023

Huang Daoyi, Jiang Jianping, Zhao Tingting, Wu Shengnan, Li Pin, Lyu Yongfen, Feng Jincai, Wei Mingyue, Zhu Zhixing, Gu Jianlei, Ren Yongyong, Yu Guangjun, Lu Hui

Abstract excerpt

SUMMARY: The next-generation sequencing brought opportunities for the diagnosis of genetic disorders due to its high-throughput capabilities. However, the majority of existing methods were limited to only sequencing candidate variants, and the process of linking these variants to a diagnosis of genetic disorders still required medical professionals to consult databases. Therefore, we introduce diseaseGPS, an...

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PMID: 37647638
DOI: 10.1093/bioinformatics/btad517
PMCID: PMC10500091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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