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Mian Umair Ahsan

Publications and source records attributed to Mian Umair Ahsan.

3 recordsLinked to original sources

FaceKit: a Toolkit for Interpretable Facial Phenotyping, Synthetic Image Generation and Privacy Analysis in Rare Diseases

Many rare genetic diseases are associated with recognizable craniofacial features. However, traditional approaches for describing facial morphology rely largely on qualitative clinical observation and free-text descriptions, which are often subjective, non-standardized, and difficult to reproduce across observers and institutions. Although the Human Phenotype Ontology (HPO) provides controlled terms for describing facial features, these terms are typically categorical rather than quantitative and may vary depending on examiner experience and interpretation. Here, we present FaceKit, a computational framework for quantitative facial phenotyping from frontal facial photographs. FaceKit extracts standardized measurements of facial landmarks and derived 120 morphological features, then reports feature-level z-scores representing deviation from population reference distributions. The reference distributions are built from the FairFace dataset spanning diverse ancestral groups. We evaluated FaceKit on a curated subset of the GestaltMatcher Database covering 50 rare-disease cohorts. In addition to quantitative facial analysis, FaceKit includes synthetic facial image generation to support rare disease model development and data augmentation. We also performed privacy evaluation to assess whether synthetic images reveal identifiable information from real patient photographs and could compromise patient privacy. Across disease case studies, FaceKit-derived quantitative measurements captured known facial features associated with rare genetic disorders and provided objective support for clinical phenotyping. Together, these results establish FaceKit as a useful tool for quantitative phenotyping, and has the potential to improve rare disease diagnosis, support genotype-phenotype studies, and enable more reproducible clinical characterization across diverse patient populations.

q-bio.QM↗

Beyond Logit Adjustment: A Residual Decomposition Framework for Long-Tailed Reranking

Long-tailed classification, where a small number of frequent classes dominate many rare ones, remains challenging because models systematically favor frequent classes at inference time. Existing post-hoc methods such as logit adjustment address this by adding a fixed classwise offset to the base-model logits. However, the correction required to restore the relative ranking of two classes need not be constant across inputs, and a fixed offset cannot adapt to such variation. We study this problem through Bayes-optimal reranking on a base-model top-k shortlist. The gap between the optimal score and the base score, the residual correction, decomposes into a classwise component that is constant within each class, and a pairwise component that depends on the input and competing labels. When the residual is purely classwise, a fixed offset suffices to recover the Bayes-optimal ordering. We further show that when the same label pair induces incompatible ordering constraints across contexts, no fixed offset can achieve this recovery. This decomposition leads to testable predictions regarding when pairwise correction can improve performance and when cannot. We develop REPAIR (Reranking via Pairwise residual correction), a lightweight post-hoc reranker that combines a shrinkage-stabilized classwise term with a linear pairwise term driven by competition features on the shortlist. Experiments on nine benchmarks confirm that the decomposition explains where pairwise correction helps and where classwise correction alone suffices. These span text classification, visual recognition, and multimodal rare-disease diagnosis.

cs.LG↗

Classification of integers based on residue classes via modern deep learning algorithms

Judging whether an integer can be divided by prime numbers such as 2 or 3 may appear trivial to human beings, but can be less straightforward for computers. Here, we tested multiple deep learning architectures and feature engineering approaches on classifying integers based on their residues when divided by small prime numbers. We found that the ability of classification critically depends on the feature space. We also evaluated Automated Machine Learning (AutoML) platforms from Amazon, Google and Microsoft, and found that they failed on this task without appropriately engineered features. Furthermore, we introduced a method that utilizes linear regression on Fourier series basis vectors, and demonstrated its effectiveness. Finally, we evaluated Large Language Models (LLMs) such as GPT-4, GPT-J, LLaMA and Falcon, and demonstrated their failures. In conclusion, feature engineering remains an important task to improve performance and increase interpretability of machine-learning models, even in the era of AutoML and LLMs.

cs.LG↗