arXiv subjects

Lukas Heinlein

Publications and source records attributed to Lukas Heinlein.

3 recordsLinked to original sources

arXiv2026

DNA Methylation Profiling in Melanoma: From Lesion Classification to Therapeutic Stratification

DNA methylation provides a stable record of cellular identity, capturing epigenetic programs that distinguish specialized cell states despite a shared genome. Because malignant transformation and tumour progression are accompanied by extensive epigenetic remodeling, we hypothesized that the methylome of melanocytic lesions contains biologically and clinically relevant information for both diagnosis and disease progression. In a cohort of 1,001 tissue samples prospectively collected across eight German university hospitals profiled using Illumina Infinium MethylationEPIC arrays, we compared machine-learning models based on selected Cytosine phosphate Guanine (CpG) methylation sites with models incorporating biology-guided features, including epigenetic age acceleration, cell type composition and copy-number variation burden. In an external test set, the best diagnostic classifier was CpG-based and distinguished melanocytic nevi, noninvasive melanoma and invasive melanoma with a macro-averaged area under the receiver operating characteristic curve of 0.919 (95% CI: 0.878 to 0.952). Notably, across CpGs most strongly hyper- and hypomethylated between NV and IM, NIM showed an intermediate methylation profile, providing a molecular correlate of its diagnostic complexity. The best model for clinically relevant treatment group prediction, with AJCC stages grouped according to guideline-based management recommendations, relied on biology-guided features and achieved a macro-averaged mean absolute error of 0.627 (95% CI: 0.477 to 0.808). Together, these findings demonstrate that methylation-based models can capture both diagnostic identity and clinically relevant disease stratification, supporting DNA methylation as a promising biomarker for further validation and potential clinical translation.

q-bio.GN↗

arXiv2024

A Multivocal Literature Review on Privacy and Fairness in Federated Learning

Federated Learning presents a way to revolutionize AI applications by eliminating the necessity for data sharing. Yet, research has shown that information can still be extracted during training, making additional privacy-preserving measures such as differential privacy imperative. To implement real-world federated learning applications, fairness, ranging from a fair distribution of performance to non-discriminative behaviour, must be considered. Particularly in high-risk applications (e.g. healthcare), avoiding the repetition of past discriminatory errors is paramount. As recent research has demonstrated an inherent tension between privacy and fairness, we conduct a multivocal literature review to examine the current methods to integrate privacy and fairness in federated learning. Our analyses illustrate that the relationship between privacy and fairness has been neglected, posing a critical risk for real-world applications. We highlight the need to explore the relationship between privacy, fairness, and performance, advocating for the creation of integrated federated learning frameworks.

cs.LG↗

arXiv2024

Clinical Melanoma Diagnosis with Artificial Intelligence: Insights from a Prospective Multicenter Study

Early detection of melanoma, a potentially lethal type of skin cancer with high prevalence worldwide, improves patient prognosis. In retrospective studies, artificial intelligence (AI) has proven to be helpful for enhancing melanoma detection. However, there are few prospective studies confirming these promising results. Existing studies are limited by low sample sizes, too homogenous datasets, or lack of inclusion of rare melanoma subtypes, preventing a fair and thorough evaluation of AI and its generalizability, a crucial aspect for its application in the clinical setting. Therefore, we assessed 'All Data are Ext' (ADAE), an established open-source ensemble algorithm for detecting melanomas, by comparing its diagnostic accuracy to that of dermatologists on a prospectively collected, external, heterogeneous test set comprising eight distinct hospitals, four different camera setups, rare melanoma subtypes, and special anatomical sites. We advanced the algorithm with real test-time augmentation (R-TTA, i.e. providing real photographs of lesions taken from multiple angles and averaging the predictions), and evaluated its generalization capabilities. Overall, the AI showed higher balanced accuracy than dermatologists (0.798, 95% confidence interval (CI) 0.779-0.814 vs. 0.781, 95% CI 0.760-0.802; p<0.001), obtaining a higher sensitivity (0.921, 95% CI 0.900- 0.942 vs. 0.734, 95% CI 0.701-0.770; p<0.001) at the cost of a lower specificity (0.673, 95% CI 0.641-0.702 vs. 0.828, 95% CI 0.804-0.852; p<0.001). As the algorithm exhibited a significant performance advantage on our heterogeneous dataset exclusively comprising melanoma-suspicious lesions, AI may offer the potential to support dermatologists particularly in diagnosing challenging cases.

eess.IV↗