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Disease phenotyping algorithms process observational clinical data to identify patients with specific diseases. Supervised phenotyping methods require significant quantities of expert-labeled data, while unsupervised methods may learn…

Machine Learning · Computer Science 2019-03-27 Victor Rodriguez , Adler Perotte

State-of-the-art machine learning models require access to significant amount of annotated data in order to achieve the desired level of performance. While unlabelled data can be largely available and even abundant, annotation process can…

Machine Learning · Computer Science 2020-10-15 Rahaf Aljundi , Nikolay Chumerin , Daniel Olmeda Reino

Predicting phenotypes from gene expression data is a crucial task in biomedical research, enabling insights into disease mechanisms, drug responses, and personalized medicine. Traditional machine learning and deep learning rely on…

Machine Learning · Computer Science 2025-09-18 Kevin Dradjat , Massinissa Hamidi , Pierre Bartet , Blaise Hanczar

Early outbreak detection is a key aspect in the containment of infectious diseases, as it enables the identification and isolation of infected individuals before the disease can spread to a larger population. Instead of detecting unexpected…

Machine Learning · Computer Science 2021-10-19 Michael Rapp , Moritz Kulessa , Eneldo Loza Mencía , Johannes Fürnkranz

We consider the problem of inferring the values of an arbitrary set of variables (e.g., risk of diseases) given other observed variables (e.g., symptoms and diagnosed diseases) and high-dimensional signals (e.g., MRI images or EEG). This is…

Machine Learning · Statistics 2019-02-07 Hao Wang , Chengzhi Mao , Hao He , Mingmin Zhao , Tommi S. Jaakkola , Dina Katabi

We present the extention and application of a new unsupervised statistical learning technique--the Partition Decoupling Method--to gene expression data. Because it has the ability to reveal non-linear and non-convex geometries present in…

Quantitative Methods · Quantitative Biology 2015-09-24 Rosemary Braun , Gregory Leibon , Scott Pauls , Daniel Rockmore

Representation learning offers a conduit to elucidate distinctive features within the latent space and interpret the deep models. However, the randomness of lesion distribution and the complexity of low-quality factors in medical images…

Computer Vision and Pattern Recognition · Computer Science 2024-04-09 Qingshan Hou , Shuai Cheng , Peng Cao , Jinzhu Yang , Xiaoli Liu , Osmar R. Zaiane , Yih Chung Tham

Recent advances in experimental methods have enabled researchers to collect data on thousands of analytes simultaneously. This has led to correlational studies that associated molecular measurements with diseases such as Alzheimer's, Liver,…

Quantitative Methods · Quantitative Biology 2024-05-20 Divyagna Bavikadi , Ayushi Agarwal , Shashank Ganta , Yunro Chung , Lusheng Song , Ji Qiu , Paulo Shakarian

A great deal of effort has been devoted to discovering a particular genetic disorder, but its classification across a broad spectrum of disorder classes and types remains elusive. Early diagnosis of genetic disorders enables timely…

Artificial Intelligence · Computer Science 2024-12-04 Abu Bakar Siddik , Faisal R. Badal , Afroza Islam

Predictive values are measures of the clinical accuracy of a binary diagnostic test, and depend on the sensitivity and the specificity of the test and on the disease prevalence among the population being studied. This article studies…

Other Statistics · Statistics 2024-08-14 Jose Antonio Roldan-Nofuentes

Rare diseases have extremely low-data regimes, unlike common diseases with large amount of available labeled data. Hence, to train a neural network to classify rare diseases with a few per-class data samples is very challenging, and so far,…

Computer Vision and Pattern Recognition · Computer Science 2020-07-16 Xiaomeng Li , Lequan Yu , Yueming Jin , Chi-Wing Fu , Lei Xing , Pheng-Ann Heng

Machine-learned diagnosis models have shown promise as medical aides but are trained under a closed-set assumption, i.e. that models will only encounter conditions on which they have been trained. However, it is practically infeasible to…

Machine Learning · Computer Science 2019-10-08 Viraj Prabhu , Anitha Kannan , Geoffrey J. Tso , Namit Katariya , Manish Chablani , David Sontag , Xavier Amatriain

Network medicine is an emerging area of research dealing with molecular and genetic interactions, network biomarkers of disease, and therapeutic target discovery. Large-scale biomedical data generation offers a unique opportunity to assess…

Molecular Networks · Quantitative Biology 2019-03-14 Abhijeet R. Sonawane , Scott T. Weiss , Kimberly Glass , Amitabh Sharma

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

Globally, there is a substantial unmet need to diagnose various diseases effectively. The complexity of the different disease mechanisms and underlying symptoms of the patient population presents massive challenges to developing the early…

Machine Learning · Computer Science 2022-01-03 Md Manjurul Ahsan , Zahed Siddique

The recent increase in morbidity is primarily due to chronic diseases including Diabetes, Heart disease, Lung cancer, and brain tumours. The results for patients can be improved, and the financial burden on the healthcare system can be…

Machine Learning · Computer Science 2025-02-18 Sri Varsha Mulakala , G. Neeharika , P. Vinay Kumar , A. Bhargava Kiran

Plant diseases are considered one of the main factors influencing food production and minimize losses in production, and it is essential that crop diseases have fast detection and recognition. The recent expansion of deep learning methods…

Computer Vision and Pattern Recognition · Computer Science 2020-09-10 Andre S. Abade , Paulo Afonso Ferreira , Flavio de Barros Vidal

Machine Learning (ML) algorithms are vital for supporting clinical decision-making in biomedical informatics. However, their predictive performance can vary across demographic groups, often due to the underrepresentation of historically…

Machine Learning · Computer Science 2025-03-04 Ioannis Bilionis , Ricardo C. Berrios , Luis Fernandez-Luque , Carlos Castillo

Preventable or undiagnosed visual impairment and blindness affect billion of people worldwide. Automated multi-disease detection models offer great potential to address this problem via clinical decision support in diagnosis. In this work,…

Image and Video Processing · Electrical Eng. & Systems 2021-03-30 Dominik Müller , Iñaki Soto-Rey , Frank Kramer

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

Genomics · Quantitative Biology 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao