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In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease-associated genetic risk factors through so-called expression…

Polygenic risk scores and other genomic analyses require large individual-level genotype datasets, yet strict data access restrictions impede sharing. Synthetic genotype generation offers a privacy-preserving alternative, but most existing…

Single-cell RNA-seq datasets are growing in size and complexity, enabling the study of cellular composition changes in various biological/clinical contexts. Scalable dimensionality reduction techniques are in need to disentangle biological…

The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high…

Machine Learning · Statistics 2015-12-04 Panpan Wang , Mohammad Rahman , Li Jin , Momiao Xiong

Prediction of seizure before they occur is vital for bringing normalcy to the lives of patients. Researchers employed machine learning methods using hand-crafted features for seizure prediction. However, ML methods are too complicated to…

Machine Learning · Computer Science 2020-12-02 Khansa Rasheed , Junaid Qadir , Terence J. O'Brien , Levin Kuhlmann , Adeel Razi

Single-cell RNA sequencing has transformed biology by enabling the measurement of gene expression at cellular resolution, providing information for cell types, states, and disease contexts. Recently, single-cell foundation models have…

Machine Learning · Computer Science 2025-10-13 Oussama Kharouiche , Aris Markogiannakis , Xiao Fei , Michail Chatzianastasis , Michalis Vazirgiannis

Network models provide a powerful framework for analysing single-cell count data, facilitating the characterisation of cellular identities, disease mechanisms, and developmental trajectories. However, uncertainty modeling in unsupervised…

Genomics · Quantitative Biology 2026-04-27 Shanshan Ren , Thomas E. Bartlett , Lina Gerontogianni , Swati Chandna

Phenotypic heterogeneity is a most fascinating property of a population of cells, which shows the differences among individuals even with the same genetic background and extracellular environmental conditions. However, the lack of…

Quantitative Methods · Quantitative Biology 2020-10-08 Huibao Feng , Chong Zhang

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

Single-cell RNA sequencing (scRNA-seq) technology enables systematic delineation of cellular states and interactions, providing crucial insights into cellular heterogeneity. Building on this potential, numerous computational methods have…

Genomics · Quantitative Biology 2025-11-11 Ping Xu , Zaitian Wang , Zhirui Wang , Pengjiang Li , Ran Zhang , Gaoyang Li , Hanyu Xie , Jiajia Wang , Yuanchun Zhou , Pengfei Wang

Identifying cell clusters is a critical step for single-cell transcriptomics study. Despite the numerous clustering tools developed recently, the rapid growth of scRNA-seq volumes prompts for a more (computationally) efficient clustering…

Quantitative Methods · Quantitative Biology 2023-01-11 Nana Wei , Yating Nie , Lin Liu , Xiaoqi Zheng , Hua-Jun Wu4

We introduce Exponential Family Discriminant Analysis (EFDA), a unified generative framework that extends classical Linear Discriminant Analysis (LDA) beyond the Gaussian setting to any member of the exponential family. Under the assumption…

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The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

Sequencing by Emergence (SEQE) is a new single-molecule nucleic acid (DNA/RNA) sequencing technology that estimates sequence as an emergent property of the binding and localization of a repertoire of short oligonucleotide probes. SEQE…

Genomics · Quantitative Biology 2021-08-04 Nicholas Boyd , Samuel Woodhouse , Kalim Mir

The challenges posed by complex stochastic models used in computational ecology, biology and genetics have stimulated the development of approximate approaches to statistical inference. Here we focus on Synthetic Likelihood (SL), a…

Methodology · Statistics 2017-06-09 Matteo Fasiolo , Simon N. Wood , Florian Hartig , Mark V. Bravington

There is a growing interest in cell-type-specific analysis from bulk samples with a mixture of different cell types. A critical first step in such analyses is the accurate estimation of cell-type proportions in a bulk sample. Although many…

Methodology · Statistics 2022-09-12 Biao Cai , Jingfei Zhang , Hongyu Li , Chang Su , Hongyu Zhao

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

Methodology · Statistics 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Single-cell RNA sequencing (scRNA-seq) determines RNA expression at single-cell resolution. It provides a powerful tool for studying immunity, regulation, and other life activities of cells. However, due to the limitations of the sequencing…

Genomics · Quantitative Biology 2024-02-16 Linfeng Jiang , Yuan Zhu

The exploration of selected single nucleotide polymorphisms (SNPs) to identify genetic diversity between different sequencing population pools (Pool-seq) is a fundamental task in genetic research. As underlying sequence reads and their…

Genomics · Quantitative Biology 2021-01-05 Julia Siekiera , Stefan Kramer

Single-cell RNA sequencing (scRNA-seq) technologies have enabled the profiling of gene expression for a collection of cells across time during a dynamic biological process. Given that each time point provides only a static snapshot,…

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