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PubMed1979

Some ethical considerations in clinical trials.

The ethical norms established in various codes and regulations are inadequate to resolve some of the ethical problems presented by clinical trials. They are stated too vaguely to provide unequivocal answers to many specific questions. In order to remedy this situation, many commentators have proposed the development of more specific and complex regulations. We propose that a more fruitful approach would be to examine the ethical principles underlying the norms and to apply these principles to the specific problems. We apply this approach to two questions: (1) Is it ethical to select subjects for a randomized clinical trial (RCT) exclusively from Veterans Administration (VA) hospitals? (2) In the conduct of a RCT is it necessary to disclose the fact that therapy will be determined by chance? We conclude that problems of justice arise not only because of the vulnerability of patients in VA hospitals but also because of the loss of the physician-patient relationship in an RCT. However, the use of patients in a VA hospital is not always unjust; in most cases such use can be made more just through various modifications in design. We also conclude that the fact of randomization should be disclosed in any situation in which it might materially affect the prospective subject's decision, and that the values and preferences of the subjects should be taken into account in determining what information might be material. This work is only a preliminary step toward analyzing ethical issues in clinical trials. While some would challenge our conclusions, we hope that our methods will facilitate clarity about the locus of disagreement in current controversies and about the value questions that must be answered in order to set an ethical context for the conduct of clinical trials.

Clinical Trials as Topic↗

PubMedDate not supplied

Primum utilis esse: the primacy of usefulness in medicine.

The famous and oft-quoted maxim "Do no harm" should not be thought of as the first principle of medical ethics. The documents of the Hippocratic tradition and clinical experience indicate that a more appropriate and helpful first principle would be "Above all, be useful." The concept of usefulness implicitly rests at the very heart of medicine itself and the physician-patient relationship. The failure to adhere to this concept undermines the physician-patient relationship, dissolves the distinction between quacks and physicians, and destroys the integrity of the medical profession. The determination of useful medical treatment belongs to both physicians and patients. Any decision to initiate, continue, or discontinue diagnostic or therapeutic action has both a medical and a personal value component; the former properly belongs to physicians and the latter to patients. Practicing medicine with the intent of producing benefit and being useful to the patient is far more fundamental than practicing medicine to avoid harm.

Clinical Competence↗

PubMed2026

Systemic Comorbidities of Keloid and Hypertrophic Scars: A Phenome-Wide Association Study in a Multiethnic U.S. Pediatric Cohort.

BACKGROUND: Excessive scarring (ES), including keloids and hypertrophic scars, impairs function, appearance, and quality of life in children. Its pediatric comorbidity spectrum is not well defined, limiting anticipatory guidance and multidisciplinary care. This research aims to investigate comorbidities of ES in a diverse pediatric cohort using a phenome-wide association study (PheWAS). METHODS: This population-based study leveraged longitudinal electronic health record (EHR) data from participants enrolled in the Children's Hospital of Philadelphia (CHOP) from 2006. Diagnosis codes (International Classification of Diseases, Ninth Revision, Clinical Modification [ICD-9-CM] and Tenth Revision [ICD-10-CM]) were mapped to 3109 phenotype codes (PheCodes). PheWAS analyses were conducted using logistic regression, with Bonferroni correction applied to account for multiple testing. RESULTS: Among 86,092 pediatric participants, 662 (0.77%) were identified with ES; the remaining served as controls. Multivariable PheWAS screening identified 154 significant associations across 16 disease categories, of which 105 were not reported previously to our knowledge. Dermatologic phenotypes (n = 28; 18%) were most enriched, including acne and other follicular disorders, eczema, pigmentary changes, papulosquamous and granulomatous disorders, and cutaneous infections. Respiratory phenotypes (n = 21; 14%) included respiratory failure, pneumonia, asthma, allergic rhinitis, pharyngitis, and tonsillar hypertrophy. Sense organ disorders (n = 19; 12%) comprised conjunctivitis, refractive errors, otitis, and hearing impairment. Infection-related phenotypes (n = 14; 9%) highlighted susceptibility to viral (influenza, human papillomavirus [HPV], molluscum contagiosum), fungal (candidiasis, dermatophytosis), and bacterial infections. CONCLUSIONS: These findings suggest that ES in children indicates not only localized wound-healing impairment, but also systemic immune, developmental, and proliferative dysregulations, emphasizing the need for genetic and mechanistic studies to clarify causal pathways and multidisciplinary surveillance beyond dermatologic care.

Humans↗

PubMed2026

2024-2025 BNT162b2 KP.2 COVID-19 full season vaccine effectiveness from vaccine registries linked to administrative claims in two states: A cohort study in non-immunocompromised adults.

BACKGROUND: Data on effectiveness of COVID-19 vaccinations during the 2024-2025 respiratory season are limited, particularly among those with underlying medical conditions (UMC). We estimated BNT162b2 KP.2 vaccine effectiveness (VE) against COVID-19-associated hospital admission, emergency department (ED), and urgent care (UC) visits in two U.S. states. METHODS: Retrospective cohort study of non-immunocompromised adults living in Louisiana or California, with ≥1 year prior continuous enrollment in insurance plans contributing to the HealthVerity claims database beginning August 22, 2024. The effectiveness of BNT162b2 KP.2 vaccine (2024-2025 formulation, hereafter referred to as BNT162b2), measured as a time-varying exposure against hospital admission, ED, or UC encounters with International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) code U07.1 was calculated as 1 - adjusted hazard ratio using Cox proportional hazard models adjusted for age group, sex, state, insurance payor, presence or absence of UMCs, and pre-index healthcare utilization. Stratifications included those aged 65 years and older, those aged 18-64 years with UMCs, and those aged 18-64 years without UMCs. RESULTS: The cohort included 6,256,421 individuals (93% California, 7% Louisiana); 330,565 (5%) received the BNT162b2 vaccine. Vaccinated individuals were older and had more comorbidities, wellness visits, and prior influenza vaccination. Overall, 66% of the study population had ≥1 UMC; the most prevalent conditions were obesity (25%), history of immunocompromised conditions (23%), and mental health conditions (19%). COVID-19-related encounter rates for ED, UC or hospitalization were lower among vaccinated compared to unvaccinated persons (25.1 vs 36.3 per 100,000 person-months). Among all adults, VE was 37% against hospitalization, 12% against ED/UC encounters, and 16% against ED/UC/hospitalization encounters. Results were similar across age groups and UMCs. CONCLUSIONS: BNT162b2 provided protection against COVID-19-associated outcomes of ED, UC or hospitalization among non-immunocompromised U.S. adults, including those with UMCs, over the course of the 2024-2025 respiratory virus season, supporting continued vaccine recommendations. REGISTRATION: This study was posted on clinicaltrials.gov prior to analyses (NCT06923137).

Adolescent↗

PubMed2026

Representation of Alzheimer Disease and Related Dementias in a Statewide Population Genomics Cohort: Early Findings from In Our DNA SC.

Alzheimer Disease and Related Dementias (ADRD) affect more than 125,000 individuals in South Carolina, yet equitable representation in population genomics initiatives remains a concern. We conducted a cross-sectional descriptive analysis of 247 In Our DNA SC participants aged 50 to 89 years with at least 1 ADRD-related diagnosis, identified using ICD-10 codes, to characterize demographic and clinical features and to compare the cohort with statewide ADRD estimates. Most participants were aged 65 years or older (82.2%), female (52.2%), and White (93.1%), while only 5.3% identified as Black. Nearly half had a Charlson Comorbidity Index score of 4 or greater (48.6%), and 49.5% had at least 10 years of longitudinal electronic health record data. Compared with statewide ADRD estimates, Black individuals were substantially underrepresented despite comprising ∼one-third of ADRD cases in South Carolina. These findings highlight the need for continued efforts to improve representation and support equitable, generalizable precision health research.

Humans↗

PubMed2026

Non-coding RNAs in cancer: multi-omics insights, liquid biopsy advances, drug resistance mechanisms, and the road to clinical translation.

For most of the twentieth century, the transcriptional output of the human genome was thought to be biologically inert-a characterization that has been proven wrong in almost every important respect. Non-coding RNAs (ncRNAs) such as microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), small nucleolar RNAs (snoRNAs) and PIWI-interacting RNAs (piRNAs) are now thought of as vital regulators of gene expression in all the stages of cancer pathogenesis, including the initial epigenetic changes, metastatic spread and the development of therapeutic resistance. This review highlights four areas where the clinical potential of ncRNAs is most promising: reconstruction of ncRNA regulatory networks by multi-omics integration; circulating ncRNAs as minimally invasive cancer biomarkers; causal roles of ncRNAs in drug resistance through epithelial-mesenchymal plasticity, metabolic reprogramming, and stromal communication; and translation of ncRNA targeting strategies to clinical trials. We will need to invest equally in mechanistic rigor and translational infrastructure to move forward.

antisense oligonucleotides↗

PubMed2026

MicroRNAs in Veterinary Viral Diseases: A Comprehensive Review from Molecular Mechanisms to Clinical Translation.

MicroRNAs (miRNAs) are small non-coding RNA molecules, approximately 22 nucleotides in length, that regulate post-transcriptional gene expression and have emerged as pivotal modulators of host-virus interactions. Veterinary viral diseases continue to pose substantial challenges to animal health, livestock productivity, food security, and public health, particularly due to their zoonotic potential. While miRNA research has advanced considerably, a comprehensive and critically integrated understanding of their biological functions and clinical applications across veterinary viral diseases remains incomplete. This comprehensive critical narrative synthesis addresses four overarching research questions: (1) What conserved and species-specific miRNA-mediated mechanisms govern major veterinary viral diseases? (2) What contextual factors determine antiviral vs. proviral duality? (3) To what extent do circulating miRNA signatures offer diagnostic and prognostic utility? (4) What translational barriers currently prevent clinical implementation, and how can the One Health framework help overcome them? Integrating three interconnected dimensions-molecular mechanisms, pathogen-specific responses, and translational applications-the review synthesizes evidence across PRRSV, avian oncogenic viruses (MDV, ALV), the immunosuppressive IBDV, FMD, BVDV, Ebola, Hendra, Rabies, and aquatic viral diseases. A key contribution of this review is the proposal of a four-axis contextual framework that explains the antiviral/proviral duality of miRNAs, and a 'One miRNA, One Health' convergence model with a concrete implementation roadmap. Key findings include: (a) a four-axis contextual framework (cell type, infection stage, viral strain, host-viral miRNA competition) that explains the antiviral/proviral duality; (b) virus-encoded miRNAs (v-miRNAs) as lower-risk therapeutic targets due to their absence from uninfected host genomes; (c) circulating miRNA biomarkers validated only at proof-of-concept stage (TRL 1-3), with no veterinary product yet at TRL ≥4; and (d) zoonotic conservation of miR-155, miR-146a, miR-21, and miR-122 across human and veterinary pathogens, supporting a 'One miRNA, One Health' convergence strategy. Critical short-term priorities are standardized pre-analytical protocols, open-access veterinary miRNA databases, and multicenter validation in natural infection cohorts.

Antiviral therapy↗

PubMed1976

Ethical considerations of study participants in dental caries clinical trials.

During the past 30 years there has been increasing concern for ethical considerations that pertain to the conduct of human biomedical research. Consequently, many national and international medical and dental organizations and agencies have developed regulations, policies or ethical guidelines for the protection of human subjects who take part in clinical investigations. In the United States, more than 500 research institutions have established permanent committees to review research in humans conducted by their institutions. Members of these committees must represent a broad range of backgrounds, interests, and concerns. Prospective study subjects must be able to make an informed decision on whether to participate in any study, without any element of force, deceit, duress, or other form of constraint or coercion. Obtaining informed consent for studies of children, the mentally infirm, and persons with restricted civil freedom presents special problems. Ethical considerations also raise questions on appropriate designs for clinical studies, e.g. use of untreated controls. Dental studies, particularly those testing caries-preventive agents, raise special questions of design, informed consent, ethical procedures and the use of diagnostic radiographs. The director of a clinical study is responsible for the conduct of all personnel connected with the investigation.

Child↗

PubMed2026

Non-coding RNAs as regulators of chromosomal instability in breast cancer.

Breast cancer is a highly heterogeneous disease characterized by extensive genomic and chromosomal instability (CIN), a hallmark that drives tumor evolution, intratumoral heterogeneity, therapeutic resistance, and poor clinical outcomes. Increasing evidence indicates that non-coding RNAs (ncRNAs) are important regulators of genome maintenance and chromosome stability. However, their specific contributions to CIN and the strength of the available evidence remain incompletely understood. This review examines the role of the major ncRNA classes, including circular RNAs, microRNAs, PIWI-interacting RNAs, small nucleolar RNAs, and long non-coding RNAs, in the regulation of CIN-related processes in breast cancer. We discuss the molecular mechanisms by which these ncRNAs regulate key pathways involved in CIN, while critically evaluating the strength of the experimental evidence supporting their functional roles. We also examine their associations with distinct breast cancer molecular subtypes and assess their potential as biomarkers and therapeutic targets, highlighting current limitations and knowledge gaps that hinder clinical translation. Collectively, the available evidence supports an emerging role for ncRNAs as regulators of CIN while underscoring the need for further mechanistic and subtype-specific studies to validate their clinical utility.

DNA repair↗

PubMed2026

Large-scale simulation of coverage and error rate tradeoffs for cancer detection in cell-free DNA whole-genome sequencing.

MOTIVATION: Cell-free DNA (cfDNA) whole-genome sequencing (WGS) is a promising approach for detecting cancer recurrence. It enables cancer detection by identifying all tumor-derived cfDNA (ctDNA) molecules carrying somatic single nucleotide variants (sSNVs). While ideally, a sequencing platform should be highly accurate for reliable ctDNA detection, in reality, all sequencing platforms introduce sequencing errors that generate false positives indistinguishable from true SNVs. Understanding how sequencing parameters influence ctDNA detection sensitivity at low tumor fractions (TFs) in cfDNA samples is essential for guiding sequencing strategies in clinical contexts. To model cfDNA sequencing for tumor detection, which contains asymmetric noise and multiple interacting parameters, analytical modeling is intractable, motivating large-scale parallelized simulation. RESULTS: We developed a simulation framework to generate in silico cfDNA data across 10 cancer types. In total, 480 million cfDNA samples were simulated from tumor WGS profiles. Overall, the lowest detectable TF differs substantially between cancer types under identical sequencing conditions due to variations in mutational load. For cancers with high mutational load, 3× coverage with low-error techniques reliably detects TFs below 0.1%. In contrast, cancers with low mutational load require at least six-fold higher coverage to achieve comparable detection thresholds. Increasing sequencing quality scores from Q30 to Q55 at 30× coverage further enhances sensitivity, enabling detection of TFs as low as 1 × 10-5. This study provides a comprehensive framework for optimizing sequencing parameters, offering valuable guidance for tailoring future technology development for specific cancer types and clinical applications. AVAILABILITY AND IMPLEMENTATION: The code is publicly available at https://github.com/UMCUGenetics/cfdetect/tree/main.

Whole Genome Sequencing↗

PubMed1979

Verbal response mode profiles of patients and physicians in medical screening interviews.

The medical importance of the patient-physician relationship is widely acknowledged, but research on its effects has been hampered by the lack of a method to quantify its clinically relevant features. In this study a new method of coding verbal interaction was applied to 52 interviews with adults in a general medical screening clinic. "Average interaction profiles" for patients and for physicians in the medical history, physical examination, and conclusion segments of the interviews provided detailed descriptions of the relationship that appear to be accurate and coincide with descriptions derived from clinical experience, textbooks, and other studies. The profiles yield quantitative indexes of such crucial aspects of the relationship as the manner in which patients give a history and physicians trasmit information to patients.

Adult↗

PubMed2025

STRUMP-I: Structure-based machine learning approach to pMHC-I binding prediction using force field energy features.

The adaptive immune system monitors cellular integrity by recognizing short peptides from intracellular proteins presented on Major Histocompatibility Complex class I (MHC-I) molecules, collectively termed peptide-MHC complexes (pMHC), enabling detection of foreign or mutated proteins. With the rising importance of immunotherapies targeting neoantigens in cancers, the ability to accurately predict which peptides will bind to the diverse population of MHC alleles is critically important. Current computational methods for pMHC-I prediction fall broadly into sequence-based methods, which rely heavily on large training datasets, and structure-based methods that leverage structural modeling and energetics of pMHC binding. While sequence-based methods have been popularly used, their performance is dependent on the size and quality of training data. On the other hands, while structure-based approaches can generalize better across diverse MHC alleles, they traditionally depend on identifying a single global minimum energy conformation, an assumption that often fails due to the inherent binding promiscuity of MHC-I molecules. To address these limitations, we developed a STRUMP-I (STRUcture-based pMHC Prediction (for class I)), a novel pMHC binding prediction tool that directly leverages a broad set of force-field-derived energy terms as machine-learning features. STRUMP-I achieves performance comparable to state-of-the-art sequence-based models while significantly outperforming them on MHC alleles with limited representation in training data. Furthermore, STRUMP-I demonstrates strong synergy when integrated with sequence-based methods, notably enhancing prediction precision. The robustness and generalizability of STRUMP-I were confirmed by evaluating its predictive performance on independent, previously unseen datasets, including an experimentally validated cancer neoantigen dataset. This combined approach advances our capability to reliably identify clinically relevant neoantigen targets. The source code and trained models are available at https://github.com/yoonjoolab/STRUMP-I.

energy optimization↗

PubMed1977

[The diagnostic value of the EEG in multiple sclerosis (author's transl)].

245 records of 178 multiple sclerotic patients were assessed from 110 EEG-parameters and 18 clinical points of view. According to the special code the data were stored on cards and later statistically evaluated. The following conclusions were made: 1. 64% of all records were abnormal. 2. The frequency of bilateral and generalized abnormalities was significantly higher with brain stem localization of clinical signs. 3. In the progressiv phase of the disease there was a significantly greater occurrance of bilateral slow EEG abnormalities and bilateral potentially epileptic signs (sharp waves, bilateral paroxysms). 4. Focal EEG abnormality is seldom found in multiple sclerosis.

Adolescent↗

PubMed2026

Pandemic-Related Disruptions and Hepatocellular Carcinoma Surveillance in Safety-Net Settings.

IMPORTANCE: Pandemic-related disruptions in cirrhosis care resulted in major gaps and delays in surveillance for hepatocellular carcinoma (HCC). Whether these initial declines improved and rebounded to prepandemic levels remains unclear. OBJECTIVE: To evaluate contemporary clinical practice data on HCC surveillance utilization from before the COVID-19 pandemic to 4 years after the onset of the pandemic among safety-net populations with cirrhosis. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study was conducted at 5 safety-net health systems in the US. Adults with cirrhosis were evaluated longitudinally across 3 time periods: March 1, 2018, to February 29, 2020 (pre-COVID-19 period), March 1, 2020, to February 28, 2022 (COVID-19 era), and March 1, 2022, to February 29, 2024 (post-COVID-19 period). MAIN OUTCOMES AND MEASURES: The primary outcome was undergoing HCC surveillance identified using Current Procedural Terminology codes for ultrasonography, computed tomography, and magnetic resonance imaging, and corresponding International Statistical Classification of Diseases, Tenth Revision, Clinical Modification diagnosis codes for indication. Comparisons of HCC surveillance across time periods used paired t tests, and comparisons of HCC surveillance between subgroups within the same time period used χ2 tests. RESULTS: Among 6940 patients with cirrhosis, 4001 (57.7%) were men (median [IQR] age, 58 [52-64] years), 206 (3.0%) were Asian, 1720 (24.8%) were Hispanic, 1672 (24.1%) were non-Hispanic Black or African American, and 3081 (44.4%) were non-Hispanic White. The proportion who underwent HCC surveillance within 6 months after diagnosis was 30.8% (1940 patients) in the pre-COVID-19 era, which declined to 21.1% (1468 patients) in the COVID-19 era, and remained at 22.3% (1405 patients) in the post-COVID-19 era. Consistent trends were observed among men and women and among all age and race groups, except for Asian individuals, for whom there was an observed increase in the post-COVID-19 era. Similar trends of low HCC surveillance post-COVID-19 were observed across insurance types but was particularly concerning among uninsured or indigent care covered patients, among whom only 116 of 997 (11.9%) underwent surveillance in the most recent period. CONCLUSIONS AND RELEVANCE: In this observational study of US safety-net populations with cirrhosis, rates of HCC surveillance following pandemic-related declines remained persistently low even up to 4 years after the onset of the COVID-19 pandemic, with fewer than 1 in 4 patients having undergone guideline-concordant HCC surveillance.

Humans↗

PubMed1979

Interaction exchange structure and patient satisfaction with medical interviews.

The verbal interaction between patients and physicians in 52 initial interviews in a university hospital screening clinic was studied using a new discourse coding system. Factor analysis of category frequencies showed that each interview segment, medical history, physical examination, and conclusion, consisted mainly of two or three types of verbal exchange. Patient satisfaction with the interviews, assessed with a questionnaire that yields separate scores for satisfaction with cognitive and affective aspects, was found to be associated with exchanges involving the transmission of information in particular interview segments. Affective satisfaction was associated with transmission of information from patient to physician in "exposition" exchanges during the medical history, in which patients told their story in their own words. Cognitive satisfaction was associated with transmission of information from physician to patient in "feedback" exchanges during the conclusion segment, in which physicians gave patients information about illness and treatment.

Adolescent↗

PubMed1977

R plasmids coding for gentamicin, tobramycin, and carbenicillin resistance in Serratia, Klebsiella and Escherichia coli strains from a single clinical source.

Serratia marcescens, Klebsiella sp. and Escherichia coli strains bearing transferable resistance to aminoglycoside antibiotics, namely, gentamicin, tobramycin, kanamycin, streptomycin, lividomycin, and carbenicillin, as well as to a series of more classical drugs, began to emerge in materials from the Frankfurt University Hospital. Plasmids from Serratia, Klebsiella, and E. coli exhibit a broad host range in that they are transferable to E. coli, Proteus mirabilis and Salmonella typhimurium receipients. They are not transferable to Pseudomonas aeruginosa, although in that species plasmids of gentamicin and tobramycin resistance, was well as of resistance to further drugs, were detected in that area as early as in 1973. High-level carbenicillinase has been identified in Serratia and Klebsiella plasmids associated with drug resistance to aminoglycoside antibiotics.

Anti-Bacterial Agents↗

PubMed1979

Tumor antigen of human cervical squamous cell carcinoma: correlation of circulating levels with disease progress.

A double-antibody radioimmunoassay method was used for serial determinations of a tumor-antigen (TA-4) of cervical squamous cell carcinoma, and the correlation of serum antigen levels with the disease progess was investigated in 23 patients with cervical squamous cell carcinoma. Ten cases with widespread metastases received radiotherapy and/or chemotherapy. Nine of these cases who showed progression of the disease had a corresponding increase in serum antigen levels, while one case who had regression of the disease showed a corresponding decrease in serum antigen levels. Thirteen patients received radical surgery, and in all of these, high pretreatment antigen levels declined to undetectable levels 1 or 2 weeks after surgery. A panel of coded sera from the NCI-Mayo Clinic Serum Bank was also studied for evaluating the specificity of the assay. Thirteen of 25 patients (52%) with cervical squamous cell carcinoma showed positive serum antigen levels, while only one of 58 control cases (1.7%) showed false-positive result. These results suggest that serial TA-4 determinations may provide a useful method for evaluating regression or progression of the disease.

Adult↗

PubMed2026

diffMONT: predicting methylation-specific PCR biomarkers based on nanopore sequencing data for clinical application.

MOTIVATION: DNA methylation serves as a key biomarker in clinical diagnostics, especially in cancer detection. With methylation-specific PCR (MSP), a widely used approach, patient samples can be screened fast and efficiently for differential methylation. During MSP, methylated regions are selectively amplified with specific primers. With nanopore sequencing, knowledge about DNA methylation is generated during direct DNA sequencing without needing pretreatment of the DNA. Multiple methods, mainly developed for whole-genome bisulfite sequencing (WGBS) data, exist to predict differentially methylated regions (DMRs) in the genome. However, the predicted DMRs are often very large and not sufficiently discriminating to generate meaningful results in MSP, creating a gap between theoretical cancer marker research and practical application, as no tool currently provides methylation difference predictions tailored for PCR-based diagnostics. RESULTS: Here, we present diffMONT, a tool that predicts differentially methylated regions specifically suited for MSP primer design, enabling rapid translation into practical applications. diffMONT takes into account (i) the specific length of primer and amplicon regions, (ii) the fact that one condition should be unmethylated, and (iii) a minimal required amount of differentially methylated cytosines within the primer regions. We compared the results of diffMONT to metilene and DSS based on a publicly available nanopore sequencing dataset and show that the regions predicted by diffMONT are more specific toward hypermethylated regions. diffMONT accelerates the design of methylation-specific diagnostic assays, bridging the gap between theoretical research and clinical application. AVAILABILITY AND IMPLEMENTATION: The source code for diffMONT, an open-source Python-based tool, is available at https://github.com/rnajena/diffMONT/, with an archived release under https://zenodo.org/records/17641031.

DNA Methylation↗