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Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

Quantitative Methods · Quantitative Biology 2024-11-12 Ali Saadat , Jacques Fellay

It has been shown that a random-effects framework can be used to test the association between a gene's expression level and the number of DNA copies of a set of genes. This gene-set modelling framework was later applied to find associations…

Methodology · Statistics 2015-10-09 Renée Menezes , Leila Mohammadi , Jelle Goeman , Judith Boer

We study the challenges of applying deep learning to gene expression data. We find experimentally that there exists non-linear signal in the data, however is it not discovered automatically given the noise and low numbers of samples used in…

Genomics · Quantitative Biology 2018-06-20 Francis Dutil , Joseph Paul Cohen , Martin Weiss , Georgy Derevyanko , Yoshua Bengio

Gene expression programming, a genotype/phenotype genetic algorithm (linear and ramified), is presented here for the first time as a new technique for the creation of computer programs. Gene expression programming uses character linear…

Artificial Intelligence · Computer Science 2007-05-23 Candida Ferreira

Failure mode and effects analysis (FMEA) is an essential tool for mitigating potential failures, particularly during the ramp-up phases of new products. However, its effectiveness is often limited by the reasoning capabilities of the FMEA…

Information Retrieval · Computer Science 2025-04-01 Lukas Bahr , Christoph Wehner , Judith Wewerka , José Bittencourt , Ute Schmid , Rüdiger Daub

Motivation: Inferring the structure of gene regulatory networks from high--throughput datasets remains an important and unsolved problem. Current methods are hampered by problems such as noise, low sample size, and incomplete…

Quantitative Methods · Quantitative Biology 2017-12-04 Phan Nguyen , Rosemary Braun

The rapid advancements in Large Language Models (LLMs) and Vision-Language Models (VLMs) have shown great potential in medical diagnostics, particularly in radiology, where datasets such as X-rays are paired with human-generated diagnostic…

Artificial Intelligence · Computer Science 2024-11-13 Francesco Chiumento , Mingming Liu

The scarcity of high-quality annotated medical data, particularly in mental health, poses a significant bottleneck for training robust machine learning models. Privacy regulations restrict data sharing, making synthetic data generation a…

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

Applications · Statistics 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

Large Language Models (LLMs) excel at generating synthetic data, but ensuring its quality and diversity remains challenging. We propose Genetic Prompt, a novel framework that combines genetic algorithms with LLMs to augment synthetic data…

Computation and Language · Computer Science 2025-09-03 Guangzeng Han , Weisi Liu , Xiaolei Huang

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee

Many statistical problems involve optimization over a discrete parameter space having an unknown dimension. In such settings, gradient-based methods often fail due to the non-differentiability of the objective function or a non-convex or…

Applications · Statistics 2026-03-19 Mo Li , QiQi Lu , Robert Lund , Xueheng Shi

In the integrative analyses of omics data, it is often of interest to extract data representation from one data type that best reflect its relations with another data type. This task is traditionally fulfilled by linear methods such as…

Applications · Statistics 2021-03-30 Tianwei Yu

Applications based on image retrieval require editing and associating in intermediate spaces that are representative of the high-level concepts like objects and their relationships rather than dense, pixel-level representations like RGB…

Computer Vision and Pattern Recognition · Computer Science 2022-07-11 Rishi Agarwal , Tirupati Saketh Chandra , Vaidehi Patil , Aniruddha Mahapatra , Kuldeep Kulkarni , Vishwa Vinay

Inferring Gene Regulatory Networks (GRNs) from gene expression data is crucial for understanding biological processes. While supervised models are reported to achieve high performance for this task, they rely on costly ground truth (GT)…

Machine Learning · Statistics 2025-06-10 Tianyu Cui , Song-Jun Xu , Artem Moskalev , Shuwei Li , Tommaso Mansi , Mangal Prakash , Rui Liao

In medical fields, text classification is one of the most important tasks that can significantly reduce human workload through structured information digitization and intelligent decision support. Despite the popularity of learning-based…

Computation and Language · Computer Science 2020-12-15 J Liu , R Bai , Z Lu , P Ge , D Liu , Uwe Aickelin

Simultaneous analysis of gene expression data and genetic variants is highly of interest, especially when the number of gene expressions and genetic variants are both greater than the sample size. Association of both causal genes and…

Methodology · Statistics 2021-10-07 Morteza Amini

One of the outstanding challenges in comparative genomics is to interpret the evolutionary importance of regulatory variation between species. Rigorous molecular evolution-based methods to infer evidence for natural selection from…

Populations and Evolution · Quantitative Biology 2013-10-16 Joshua G. Schraiber , Yulia Mostovoy , Tiffany Y. Hsu , Rachel B. Brem

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

The recent explosion of genetic and high dimensional biobank and 'omic' data has provided researchers with the opportunity to investigate the shared genetic origin (pleiotropy) of hundreds to thousands of related phenotypes. However,…

Methodology · Statistics 2023-03-21 Weiqiong Huang , Emily C. Hector , Joshua Cape , Chris McKennan