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The discovery of causal relationships from high-dimensional data is a major open problem in bioinformatics. Machine learning and feature attribution models have shown great promise in this context but lack causal interpretation. Here, we…

Machine Learning · Computer Science 2023-04-26 Payam Dibaeinia , Saurabh Sinha

Answer selection (answer ranking) is one of the key steps in many kinds of question answering (QA) applications, where deep models have achieved state-of-the-art performance. Among these deep models, recurrent neural network (RNN) based…

Computation and Language · Computer Science 2019-05-28 Dong Xu , Jianhui Ji , Haikuan Huang , Hongbo Deng , Wu-Jun Li

Many real-world optimization problems are not naturally homogeneous vectors but composite design objects with heterogeneous parameters: integers, real values, Booleans, categoricals, complex-valued descriptors, and embedding vectors.…

Neural and Evolutionary Computing · Computer Science 2026-05-14 Alex Bogdan

Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

This review introduces the transformative potential of generative Artificial Intelligence (AI) and foundation models, including large language models (LLMs), for health technology assessment (HTA). We explore their applications in four…

Machine Learning · Computer Science 2024-09-24 Rachael Fleurence , Jiang Bian , Xiaoyan Wang , Hua Xu , Dalia Dawoud , Mitch Higashi , Jagpreet Chhatwal

Using natural language processing (NLP) technologies to develop medical chatbots makes the diagnosis of the patient more convenient and efficient, which is a typical application in healthcare AI. Because of its importance, lots of research…

Computation and Language · Computer Science 2023-12-06 Ke Liang , Sifan Wu , Jiayi Gu

Gene expression microarray technologies provide the simultaneous measurements of a large number of genes. Typical analyses of such data focus on the individual genes, but recent work has demonstrated that evaluating changes in expression…

Applications · Statistics 2010-06-29 Babak Shahbaba , Robert Tibshirani , Catherine M. Shachaf , Sylvia K. Plevritis

Generative AI has the potential to transform knowledge work, but further research is needed to understand how knowledge workers envision using and interacting with generative AI. We investigate the development of generative AI tools to…

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies…

Machine Learning · Computer Science 2025-04-14 Catarina Canastra , Cátia Pesquita

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

Methodology · Statistics 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While…

Machine Learning · Statistics 2019-01-01 Hung-I Harry Chen , Yu-Chiao Chiu , Tinghe Zhang , Songyao Zhang , Yufei Huang , Yidong Chen

Recent breakthroughs in cancer research have come via the up-and-coming field of pathway analysis. By applying statistical methods to prior known gene and protein regulatory information, pathway analysis provides a meaningful way to…

Genomics · Quantitative Biology 2017-10-11 Yue Zhao

In The Cancer Genome Atlas (TCGA) data set, there are many interesting nonlinear dependencies between pairs of genes that reveal important relationships and subtypes of cancer. Such genomic data analysis requires a rapid, powerful and…

Applications · Statistics 2022-11-30 Siqi Xiang , Wan Zhang , Siyao Liu , Katherine A. Hoadley , Charles M. Perou , Kai Zhang , J. S. Marron

The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state of the art for computational prediction of genetic variant impact, particularly those relevant to disease. The five complete editions of the CAGI community…

Genomics · Quantitative Biology 2024-06-19 The Critical Assessment of Genome Interpretation Consortium

Accurate, fair, and explainable allocation of candidates to roles represents a fundamental challenge across multiple domains including corporate hiring, academic admissions, fellowship awards, and volunteer placement systems. Current…

Artificial Intelligence · Computer Science 2025-10-01 Rishi Ashish Shah , Shivaay Dhondiyal , Kartik Sharma , Sukriti Talwar , Saksham Jain , Sparsh Jain

Computational phylogenetics has become an established tool in historical linguistics, with many language families now analyzed using likelihood-based inference. However, standard approaches rely on expert-annotated cognate sets, which are…

Computation and Language · Computer Science 2026-03-30 Gerhard Jäger

Large language models (LLMs) are having transformative impacts across a wide range of scientific fields, particularly in the biomedical sciences. Just as the goal of Natural Language Processing is to understand sequences of words, a major…

Genomics · Quantitative Biology 2024-09-24 Gonzalo Benegas , Chengzhong Ye , Carlos Albors , Jianan Canal Li , Yun S. Song

Machine learning methods can detect complex relationships between variables, but usually do not exploit domain knowledge. This is a limitation because in many scientific disciplines, such as systems biology, domain knowledge is available in…

Artificial Intelligence · Computer Science 2023-07-31 Bastian Pfeifer , Hubert Baniecki , Anna Saranti , Przemyslaw Biecek , Andreas Holzinger

This paper discusses the problem of identifying differentially expressed groups of genes from a microarray experiment. The groups of genes are externally defined, for example, sets of gene pathways derived from biological databases. Our…

Statistics Theory · Mathematics 2009-09-29 Bradley Efron , Robert Tibshirani