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While generative models have recently become ubiquitous in many scientific areas, less attention has been paid to their evaluation. For molecular generative models, the state-of-the-art examines their output in isolation or in relation to…

Understanding how genes influence phenotype across species is a fundamental challenge in genetic engineering, which will facilitate advances in various fields such as crop breeding, conservation biology, and personalized medicine. However,…

Machine Learning · Computer Science 2025-03-11 Mengdi Liu , Zhangyang Gao , Hong Chang , Stan Z. Li , Shiguang Shan , Xilin Chen

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

Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical…

Genomics · Quantitative Biology 2015-06-15 Uma Paila , Brad Chapman , Rory Kirchner , Aaron Quinlan

This manuscript delves into the intersection of genomics and phenotypic prediction, focusing on the statistical innovation required to navigate the complexities introduced by noisy covariates and confounders. The primary emphasis is on the…

Methodology · Statistics 2024-11-15 Upama Paul Chowdhury , Ronit Bhattacharjee , Susmita Das , Abhik Ghosh

New powerful tools for tackling life science problems have been created by recent advances in machine learning. The purpose of the paper is to discuss the potential advantages of gene recommendation performed by artificial intelligence…

Quantitative Methods · Quantitative Biology 2023-03-23 Daniele Brambilla , Davide Maria Giacomini , Luca Muscarnera , Andrea Mazzoleni

Elucidating the genetic basis of human diseases is a central goal of genetics and molecular biology. While traditional linkage analysis and modern high-throughput techniques often provide long lists of tens or hundreds of disease gene…

Quantitative Methods · Quantitative Biology 2011-06-03 Fantine Mordelet , Jean-Philippe Vert

Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed physical traits or phenotypes. While traditional approaches…

Quantitative Methods · Quantitative Biology 2024-04-04 Junyoung Kim , Jingye Yang , Kai Wang , Chunhua Weng , Cong Liu

The widespread application of Artificial Intelligence (AI) techniques has significantly influenced the development of new therapeutic agents. These computational methods can be used to design and predict the properties of generated…

Neural and Evolutionary Computing · Computer Science 2024-08-21 Arthur Cerveira , Frederico Kremer , Darling de Andrade Lourenço , Ulisses B Corrêa

We propose a novel deep neural network architecture to integrate imaging and genetics data, as guided by diagnosis, that provides interpretable biomarkers. Our model consists of an encoder, a decoder and a classifier. The encoder learns a…

Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

Gene regulatory networks (GRNs) are essential for understanding cell fate decisions and disease mechanisms, yet cross-species GRN inference from single-cell RNA-seq data remains challenging due to noise, sparsity, and cross-species…

Genomics · Quantitative Biology 2026-01-19 Shuai Yan , Qingzhi Yu , Wengfeng Dai , Xiang Cheng

Recently, there has been a surge of interest in Multi-Target Cross-Domain Recommendation (MTCDR), which aims to enhance recommendation performance across multiple domains simultaneously. Existing MTCDR methods primarily rely on…

Information Retrieval · Computer Science 2025-08-08 Jinqiu Jin , Yang Zhang , Fuli Feng , Xiangnan He

Parkinson's disease is a progressive and slowly developing neurodegenerative disease, characterized by dopaminergic neuron loss in the substantia nigra region of the brain. Despite extensive research by scientists, there is not yet a cure…

Quantitative Methods · Quantitative Biology 2024-08-31 Pratham Kankariya , Rachita Rode , Kevin Mudaliar , Pranali Hatode

Machine learning has been gaining traction in recent years to meet the demand for tools that can efficiently analyze and make sense of the ever-growing databases of biomedical data in health care systems around the world. However,…

Neural and Evolutionary Computing · Computer Science 2017-02-08 Andrew Sohn , Randal S. Olson , Jason H. Moore

Generative retrieval represents a novel approach to information retrieval. It uses an encoder-decoder architecture to directly produce relevant document identifiers (docids) for queries. While this method offers benefits, current approaches…

Information Retrieval · Computer Science 2024-09-30 Yubao Tang , Ruqing Zhang , Jiafeng Guo , Maarten de Rijke , Wei Chen , Xueqi Cheng

Inferring the structure of gene regulatory networks (GRN) from gene expression data has many applications, from the elucidation of complex biological processes to the identification of potential drug targets. It is however a notoriously…

Machine Learning · Statistics 2012-05-08 Anne-Claire Haury , Fantine Mordelet , Paola Vera-Licona , Jean-Philippe Vert

Background: Identifying new indications for approved drugs is a complex and time-consuming process that requires extensive knowledge of pharmacology, clinical data, and advanced computational methods. Recently, deep learning (DL) methods…

Machine Learning · Computer Science 2025-11-13 Shuting Jin , Yi Jiang , Yimin Liu , Tengfei Ma , Dongsheng Cao , Leyi Wei , Xiangrong Liu , Xiangxiang Zeng

The identification of disease-associated genes has recently gathered much attention for uncovering disease complex mechanisms that could lead to new insights into the treatment of diseases. For exploring disease-susceptible genes, not only…

Computational Engineering, Finance, and Science · Computer Science 2016-04-27 Zahra Razaghi-Moghadam , Razieh Abdollahi , Sama Goliaei , Morteza Ebrahimi

The first step in drug discovery is finding drug molecule moieties with medicinal activity against specific targets. Therefore, it is crucial to investigate the interaction between drug-target proteins and small chemical molecules. However,…

Biomolecules · Quantitative Biology 2022-11-15 Boyuan Liu