Biodata MiningPub Date : 2026-03-20DOI: 10.1186/s13040-026-00530-8
Esraa Hamdi Abdelaziz, Eman Amin, Rasha Ismail, Mai Mabrouk
{"title":"Profile-guided Hybrid Approach for block-wise missing data handling in multi-omics: a breast cancer case study.","authors":"Esraa Hamdi Abdelaziz, Eman Amin, Rasha Ismail, Mai Mabrouk","doi":"10.1186/s13040-026-00530-8","DOIUrl":"10.1186/s13040-026-00530-8","url":null,"abstract":"","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biodata MiningPub Date : 2026-03-04DOI: 10.1186/s13040-026-00538-0
Augustus Osborne, David B Olawade, Ekomobong Aniefiok Oton, Liwi Martin Odey, Kobloobase Usani
{"title":"Hierarchical machine learning models for predicting antenatal care utilisation among Nigerian women: Identifying actionable insights for health policy.","authors":"Augustus Osborne, David B Olawade, Ekomobong Aniefiok Oton, Liwi Martin Odey, Kobloobase Usani","doi":"10.1186/s13040-026-00538-0","DOIUrl":"10.1186/s13040-026-00538-0","url":null,"abstract":"","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13067523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biodata MiningPub Date : 2026-03-04DOI: 10.1186/s13040-026-00533-5
Da-Bin Lee, Hyun-Uk Kang, Kyu-Baek Hwang
{"title":"Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.","authors":"Da-Bin Lee, Hyun-Uk Kang, Kyu-Baek Hwang","doi":"10.1186/s13040-026-00533-5","DOIUrl":"10.1186/s13040-026-00533-5","url":null,"abstract":"","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12964711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Deep learning-enabled ECG system for detecting left ventricular hypertrophy and predicting cardiovascular prognoses.","authors":"Zhe-Yu Yang, Shi-Chue Hsing, Dung-Jang Tsai, Chin Lin, Chin-Sheng Lin, Chih-Hung Wang, Wen-Hui Fang","doi":"10.1186/s13040-026-00536-2","DOIUrl":"10.1186/s13040-026-00536-2","url":null,"abstract":"<p><p>Left ventricular hypertrophy (LVH) is a common condition with a prevalence of 15%-20% in general population. Prior studies have suggested that deep learning model (DLM)-enabled electrocardiogram (ECG) systems can aid LVH detection and cardiovascular risk assessment; however, conventional manual ECG criteria have limited sensitivity and their prognostic utility remains suboptimal. Therefore, this study aimed to develop a DLM-enabled ECG system to detect LVH and evaluate its prognostic associations with incident cardiovascular outcomes. A total of 40,736 patients from hospital A were used for model development (training and tuning) and internal validation (29,595/5,935/5,206 patients, respectively), and 6,271 patients from hospital B were used for external validation. LVH was defined by left ventricular mass index (LVMI) derived from echocardiography. Prognostic outcomes included new-onset acute myocardial infarction (AMI), heart failure (HF), and atrial fibrillation (AFib). In the external validation set, our AI-ECG-LVH model achieved area under the receiver operating characteristic curve (AUC) values of 0.82 in males and 0.77 in females. Furthermore, the hazard ratios for incident AMI, HF, and AFib were 2.67, 3.15, and 2.23 for AI-ECG-LVH, compared with 2.76, 3.78, and 2.25 for echocardiography-defined LVH (ECHO-LVH). Our AI-ECG-LVH model may provide a straightforward, affordable, and noninvasive approach for LVH screening and first-contact risk stratification.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13069749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biodata MiningPub Date : 2026-02-28DOI: 10.1186/s13040-026-00529-1
Sona M Al Younis, Samit Kumar Ghosh, Feryal A Alskafi, Siamak Yousefi, Namareq Widatalla, Ahsan H Khandoker
{"title":"From retina to heart: explainable machine learning using OCT and Clinical covariates for heart failure screening.","authors":"Sona M Al Younis, Samit Kumar Ghosh, Feryal A Alskafi, Siamak Yousefi, Namareq Widatalla, Ahsan H Khandoker","doi":"10.1186/s13040-026-00529-1","DOIUrl":"10.1186/s13040-026-00529-1","url":null,"abstract":"<p><p>Heart failure affects over 64 million individuals globally, contributing to elevated mortality rates and substantial healthcare costs. This study investigates the potential of retinal optical coherence tomography features combined with routine clinical variables as biomarkers for the detection of heart failure, exploring a potential avenue for improved risk assessment and screening support using explainable machine-learning tools. A comprehensive dataset of normal and heart failure patients' demographic and medical records including retinal measurements from both eyes was used. Among the machine learning models employed, the Extreme Gradient Boosting model demonstrated the best performance, achieving an accuracy of 73.31%, a precision of 71.81%, and an area under the receiver operating characteristic curve of 0.837. Explainability analyses further revealed that macular thickness metrics, particularly in the inner temporal subfield, inner nasal subfield, and outer superior subfields of the left eye, along with key clinical indicators such as age, body mass index, and glycated hemoglobin, were the most influential predictors of heart failure status. Local explanation methods also provided patient-level reasoning consistent with overall cohort patterns. To our knowledge, this is the first study to use an integrated, explainable approach incorporating bilateral retinal optical coherence tomography measurements with routine clinical indicators for heart failure detection, providing an interpretable and accessible alternative to black-box models while helping address the cost, invasiveness, and limited accessibility of existing heart failure diagnostic tools.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13097962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Biodata MiningPub Date : 2026-02-19DOI: 10.1186/s13040-026-00527-3
Max Gordon, Turgut Yigit Akyol, B Amos, Stig U Andersen, Cranos Williams
{"title":"KeySDL: sparse dictionary learning for keystone microbe identification from steady-state observations using a dynamical-systems model.","authors":"Max Gordon, Turgut Yigit Akyol, B Amos, Stig U Andersen, Cranos Williams","doi":"10.1186/s13040-026-00527-3","DOIUrl":"10.1186/s13040-026-00527-3","url":null,"abstract":"","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"19 1","pages":"18"},"PeriodicalIF":6.1,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12922210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146229489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}