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Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
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[Diagnostics in human genetics : Integration of phenotypic and genomic data].
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Exome sequencing greatly expedites the progressive research of Mendelian diseases.
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6
A similarity-based method for genome-wide prediction of disease-relevant human genes.
Bioinformatics. 2002;18 Suppl 2:S110-5. doi: 10.1093/bioinformatics/18.suppl_2.s110.
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Update of the G2D tool for prioritization of gene candidates to inherited diseases.
Nucleic Acids Res. 2007 Jul;35(Web Server issue):W212-6. doi: 10.1093/nar/gkm223. Epub 2007 May 3.
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Speeding disease gene discovery by sequence based candidate prioritization.
BMC Bioinformatics. 2005 Mar 14;6:55. doi: 10.1186/1471-2105-6-55.
9
The Phenolyzer Suite: Prioritizing the Candidate Genes Involved in Microtia.
Ann Otol Rhinol Laryngol. 2019 Jun;128(6):556-562. doi: 10.1177/0003489419840052. Epub 2019 Apr 2.
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Autozygosity mapping with exome sequence data.
Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22.

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Unveiling the hidden risk of caspofungin: insights from three adverse event reporting systems and network pharmacology integration.
Front Pharmacol. 2025 Aug 13;16:1632488. doi: 10.3389/fphar.2025.1632488. eCollection 2025.
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Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.
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Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.
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A pathway-informed disease-related gene identification approach and its application to screen novel risk genes for Alzheimer's disease.
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Protein structural domain-disease association prediction based on heterogeneous networks.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Nat Methods. 2014 Sep;11(9):935-7. doi: 10.1038/nmeth.3046. Epub 2014 Aug 3.
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Jannovar: a java library for exome annotation.
Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9.
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ClinVar: public archive of relationships among sequence variation and human phenotype.
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. doi: 10.1093/nar/gkt1113. Epub 2013 Nov 14.
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Improved exome prioritization of disease genes through cross-species phenotype comparison.
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PosMed: Ranking genes and bioresources based on Semantic Web Association Study.
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Refinement in localization and identification of gene regions associated with Crohn disease.
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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
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