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The detection of rare variants is important for understanding the genetic heterogeneity in mixed samples. Recently, next-generation sequencing (NGS) technologies have enabled the identification of single nucleotide variants (SNVs) in mixed…

Genomics · Quantitative Biology 2016-04-25 Fan Zhang , Patrick Flaherty

Single-cell RNA sequencing (scRNA-seq) enables the study of cellular diversity at single cell level. It provides a global view of cell-type specification during the onset of biological mechanisms such as developmental processes and human…

Machine Learning · Computer Science 2025-11-05 Muhammad Umar , Andras Lakatos , Muhammad Asif , Arif Mahmood

Motivation: Proteomic mass spectrometry analysis is becoming routine in clinical diagnostics, for example to monitor cancer biomarkers using blood samples. However, differential proteomics and identification of peaks relevant for class…

Genomics · Quantitative Biology 2015-10-06 Sebastian Gibb , Korbinian Strimmer

DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

In molecular biology, advances in high-throughput technologies have made it possible to study complex multivariate phenotypes and their simultaneous associations with high-dimensional genomic and other omics data, a problem that can be…

Methodology · Statistics 2021-12-02 Zhi Zhao , Marco Banterle , Leonardo Bottolo , Sylvia Richardson , Alex Lewin , Manuela Zucknick

Interpretability of deep learning is widely used to evaluate the reliability of medical imaging models and reduce the risks of inaccurate patient recommendations. For models exceeding human performance, e.g. predicting RNA structure from…

Quantitative Methods · Quantitative Biology 2022-08-31 Mara Graziani , Niccolò Marini , Nicolas Deutschmann , Nikita Janakarajan , Henning Müller , María Rodríguez Martínez

Retrieving binary code via natural language queries is a pivotal capability for downstream tasks in the software security domain, such as vulnerability detection and malware analysis. However, it is challenging to identify binary functions…

Software Engineering · Computer Science 2026-01-06 Guoqiang Chen , Lingyun Ying , Ziyang Song , Daguang Liu , Qiang Wang , Zhiqi Wang , Li Hu , Shaoyin Cheng , Weiming Zhang , Nenghai Yu

Most protocols for the high-throughput directed evolution of enzymes rely on random encapsulation to link phenotype and genotype. In order to optimize these approaches, or compare one to another, one needs a measure of their performance at…

Populations and Evolution · Quantitative Biology 2018-11-14 Adèle Dramé-Maigné , Anton Zadorin , Iaroslava Golovkova , Yannick Rondelez

Bayesian inference is a widely used technique for real-time characterization of quantum systems. It excels in experimental characterization in the low data regime, and when the measurements have degrees of freedom. A decisive factor for its…

Quantum Physics · Physics 2025-07-10 Alexandra Ramôa , Raffaele Santagati , Nathan Wiebe

Bayesian inference allows us to define a posterior distribution over the weights of a generic neural network (NN). Exact posteriors are usually intractable, in which case approximations can be employed. One such approximation - variational…

Machine Learning · Computer Science 2026-01-30 Andrew Millard , Joshua Murphy , Peter Green , Simon Maskell

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

Rapidly assaying the diversity of a bacterial species present in a sample obtained from a hospital patient or an evironmental source has become possible after recent technological advances in DNA sequencing. For several applications it is…

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

Bayesian phylogenetic inference is currently done via Markov chain Monte Carlo (MCMC) with simple proposal mechanisms. This hinders exploration efficiency and often requires long runs to deliver accurate posterior estimates. In this paper,…

Machine Learning · Statistics 2024-05-24 Cheng Zhang , Frederick A. Matsen

Recent advances in technology have enabled the measurement of RNA levels for individual cells. Compared to traditional tissue-level bulk RNA-seq data, single cell sequencing yields valuable insights about gene expression profiles for…

Applications · Statistics 2019-04-16 Lingxue Zhu , Jing Lei , Bernie Devlin , Kathryn Roeder

Single-cell RNA sequencing (scRNA-seq) has emerged as a transformative technology, offering unparalleled insights into the intricate landscape of cellular diversity and gene expression dynamics. The analysis of scRNA-seq data poses…

Molecular Networks · Quantitative Biology 2023-12-19 Hongsong Feng , Sean Cottrell , Yuta Hozumi , Guo-Wei Wei

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…

We provide a mathematical formulation and develop a computational framework for identifying multiple strains of microorganisms from mixed samples of DNA. Our method is applicable in public health domains where efficient identification of…

This study evaluates the concordance between RNA sequencing (RNA-Seq) and NanoString technologies for gene expression analysis in non-human primates (NHPs) infected with Ebola virus (EBOV). We performed a detailed comparison of both…

Genomics · Quantitative Biology 2024-11-01 Mostafa Rezapour , Aarthi Narayanan , Wyatt H. Mowery , Metin Nafi Gurcan

Motivation: Predictive modelling of gene expression is a powerful framework for the in silico exploration of transcriptional regulatory interactions through the integration of high-throughput -omics data. A major limitation of previous…

Genomics · Quantitative Biology 2018-08-14 David M Budden , Daniel G Hurley , Edmund J Crampin
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