Disease candidate genes prediction using positive labeled and unlabeled instances

Identifying disease genes and understanding their performance is critical in producing drugs for genetic diseases. Nowadays, laboratory approaches are not only used for disease gene identification but also using computational approaches like machine learning are becoming considerable for this purpose. In machine learning methods, researchers can only use two data types (disease genes and unknown genes) to predict disease candidate genes. Notably, there is no source for the negative data set. The proposed method is a two-step process: The first step is the extraction of reliable negative genes from a set of unlabeled genes by one-class learning and a filter based on distance indicators from known disease genes; this step is performed separately for each disease. The second step is the learning of a binary model using causing genes of each disease as a positive learning set and the reliable negative genes extracted from that disease. Each gene in the unlabeled gene's production and ranking step is assigned a normalized score using two filters and a learned model. Consequently, disease genes are predicted and ranked. The proposed method evaluation of various six diseases and Cancer class indicates better results than other studies.

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Publication Details

Journal
BMC Medical Genomics
Published
2025-04-16
DOI
https://doi.org/10.1186/s12920-025-02109-4
Primary Topic
Machine Learning in Bioinformatics
Type
article
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article

Disease candidate genes prediction using positive labeled and unlabeled instances

Saeed Jalili, Sepideh Molaei
BMC Medical Genomics
Machine Learning in Bioinformatics
article

Disease candidate genes prediction using positive labeled and unlabeled instances

Saeed Jalili, Sepideh Molaei
article en

Abstract

Identifying disease genes and understanding their performance is critical in producing drugs for genetic diseases. Nowadays, laboratory approaches are not only used for disease gene identification but also using computational approaches like machine learning are becoming considerable for this purpose. In machine learning methods, researchers can only use two data types (disease genes and unknown genes) to predict disease candidate genes. Notably, there is no source for the negative data set. The proposed method is a two-step process: The first step is the extraction of reliable negative genes from a set of unlabeled genes by one-class learning and a filter based on distance indicators from known disease genes; this step is performed separately for each disease. The second step is the learning of a binary model using causing genes of each disease as a positive learning set and the reliable negative genes extracted from that disease. Each gene in the unlabeled gene's production and ranking step is assigned a normalized score using two filters and a learned model. Consequently, disease genes are predicted and ranked. The proposed method evaluation of various six diseases and Cancer class indicates better results than other studies.

BMC Medical GenomicsVol. 18(1)
Tarbiat Modares University (IR)
Openalex Percentile: Top 93%
Machine Learning in Bioinformatics
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Disease candidate genes prediction using positive labeled and unlabeled instances — Saeed Jalili, Sepideh Molaei · BMC Medical Genomics (2025) | TGRS Research Map | TGRS