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Generative AI foundation models offer transformative potential for processing structured biological data, particularly in single-cell RNA sequencing, where datasets are rapidly scaling toward billions of cells. We propose the use of agentic…

Genomics · Quantitative Biology 2025-06-18 Saleem A. Al Dajani , Abel Sanchez , John R. Williams

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

As high-throughput sequencing has become common practice, the cost of sequencing large amounts of genetic data has been drastically reduced, leading to much larger data sets for analysis. One important task is to identify biological…

Methodology · Statistics 2014-10-14 Ciaran Evans , Johanna Hardin , Mark Huber , Daniel Stoebel , Garrett Wong

Deep learning has been widely used for protein engineering. However, it is limited by the lack of sufficient experimental data to train an accurate model for predicting the functional fitness of high-order mutants. Here, we develop SESNet,…

Quantitative Methods · Quantitative Biology 2023-04-10 Mingchen Li , Liqi Kang , Yi Xiong , Yu Guang Wang , Guisheng Fan , Pan Tan , Liang Hong

There has recently been a concerted effort to derive mechanisms in vision and machine learning systems to offer uncertainty estimates of the predictions they make. Clearly, there are enormous benefits to a system that is not only accurate…

Machine Learning · Computer Science 2018-09-05 Seong Jae Hwang , Ronak Mehta , Hyunwoo J. Kim , Vikas Singh

Single-cell RNA-seq data allow the quantification of cell type differences across a growing set of biological contexts. However, pinpointing a small subset of genomic features explaining this variability can be ill-defined and…

Machine Learning · Statistics 2022-07-29 Nabeel Sarwar , Wilson Gregory , George A Kevrekidis , Soledad Villar , Bianca Dumitrascu

Single-cell RNA sequencing provides insights into gene expression at single-cell resolution, yet inferring temporal processes from these static snapshot measurements remains a fundamental challenge. Current approaches utilizing neural…

Machine Learning · Computer Science 2026-05-21 Mehmet Yigit Balik , Harri Lähdesmäki

Differential expression (DE) plays a fundamental role toward illuminating the molecular mechanisms driving a difference between groups (e.g., due to treatment or disease). While any analysis is run on particular cells/samples, the intent is…

Quantitative Methods · Quantitative Biology 2023-12-12 Miriam Shiffman , Ryan Giordano , Tamara Broderick

Bulk gene expression experiments relied on aggregations of thousands of cells to measure the average expression in an organism. Advances in microfluidic and droplet sequencing now permit expression profiling in single cells. This study of…

Methodology · Statistics 2019-07-04 Andrew McDavid , Raphael Gottardo , Noah Simon , Mathias Drton

Recent studies on fairness have shown that Facial Expression Recognition (FER) models exhibit biases toward certain visually perceived demographic groups. However, the limited availability of human-annotated demographic labels in public FER…

Computer Vision and Pattern Recognition · Computer Science 2025-05-28 Tangzheng Lian , Oya Celiktutan

We combine two important ideas in the analysis of large-scale genomics experiments (e.g. experiments that aim to identify genes that are differentially expressed between two conditions). The first is use of Empirical Bayes (EB) methods to…

Methodology · Statistics 2026-02-02 David Gerard , Matthew Stephens

In cancer biomarker development, a key objective is to evaluate whether a new biomarker, when combined with an established one, improves early cancer detection compared to using the established biomarker alone. Incremental value is often…

Methodology · Statistics 2025-11-21 Indrila Ganguly , Ying Huang

Cataloging the neuronal cell types that comprise circuitry of individual brain regions is a major goal of modern neuroscience and the BRAIN initiative. Single-cell RNA sequencing can now be used to measure the gene expression profiles of…

Single-cell RNA sequencing (scRNA-seq) has revolutionized our ability to analyze gene expression at the cellular level. By providing data on gene expression for each individual cell, scRNA-seq generates large datasets with thousands of…

Computational Complexity · Computer Science 2025-02-11 Md Romizul Islam , Swakkhar Shatabda

The rapid integration of machine learning methodologies in healthcare has ignited innovative strategies for disease prediction, particularly with the vast repositories of Electronic Health Records (EHR) data. This article delves into the…

Machine Learning · Computer Science 2024-08-07 D. Dhinakaran , S. Edwin Raja , M. Thiyagarajan , J. Jeno Jasmine , P. Raghavan

The newly developed deep-sequencing technologies make it possible to acquire both quantitative and qualitative information regarding transcript biology. By measuring messenger RNA levels for all genes in a sample, RNA-seq provides an…

Genomics · Quantitative Biology 2014-12-05 Lerong Li , Momiao Xiong

The sample frequency spectrum (SFS) of DNA sequences from a collection of individuals is a summary statistic which is commonly used for parametric inference in population genetics. Despite the popularity of SFS-based inference methods,…

Populations and Evolution · Quantitative Biology 2015-06-24 Jonathan Terhorst , Yun S. Song

Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments.…

Machine Learning · Computer Science 2016-09-15 Kerstin Bunte , Eemeli Leppäaho , Inka Saarinen , Samuel Kaski

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

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