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Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor…

Machine Learning · Computer Science 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

Non-coding RNA structure and function are essential to understanding various biological processes, such as cell signaling, gene expression, and post-transcriptional regulations. These are all among the core problems in the RNA field. With…

Quantitative Methods · Quantitative Biology 2022-08-09 Jiayang Chen , Zhihang Hu , Siqi Sun , Qingxiong Tan , Yixuan Wang , Qinze Yu , Licheng Zong , Liang Hong , Jin Xiao , Tao Shen , Irwin King , Yu Li

The increasing prevalence of SARS-CoV-2 variants with spike mutations has raised concerns owing to higher transmission rates, disease severity, and escape from neutralizing antibodies. Rapid and accurate detection of SARS-CoV-2 variants…

Quantitative Methods · Quantitative Biology 2021-10-26 C He , C Lin , G Mo , B Xi , A Li , D Huang , Y Wan , F Chen , Y Liang , Q Zuo , W Xu , D Feng , G Zhang , L Han , C Ke , H Du , L Huang

Recombination is a powerful evolutionary process that shapes the genetic diversity observed in the populations of many species. Reconstructing genealogies in the presence of recombination from sequencing data is a very challenging problem,…

Populations and Evolution · Quantitative Biology 2022-06-01 Elizabeth Hayman , Anastasia Ignatieva , Jotun Hein

As synthetic genomics scales toward the construction of increasingly larger genomes, computational strategies are needed to address technical feasibility. We introduce an algorithmic framework for the Minimum-Cost Synthetic Genome Planning…

Genomics · Quantitative Biology 2025-09-09 Michail Patsakis , Ioannis Mouratidis , Ilias Georgakopoulos-Soares

Biological sequence analysis is an essential step toward building a deeper understanding of the underlying functions, structures, and behaviors of the sequences. It can help in identifying the characteristics of the associated organisms,…

Machine Learning · Computer Science 2023-03-07 Taslim Murad , Sarwan Ali , Murray Patterson

Motivation: Modern genomics laboratories generate massive volumes of sequencing data, often resulting in significant storage costs. Genomics storage consists of duplicate files, temporary processing files, and redundant intermediate data.…

Genomics · Quantitative Biology 2025-11-27 Margot Celerie , Andrew Oldfield , William Ritchie

Several modern genomic technologies, such as DNA-Methylation arrays, measure spatially registered probes that number in the hundreds of thousands across multiplechromosomes. The measured probes are by themselves less interesting…

Applications · Statistics 2016-11-16 John Nagorski , Genevera I. Allen

Advances in high-throughput technologies have originated an ever-increasing availability of omics datasets. The integration of multiple heterogeneous data sources is currently an issue for biology and bioinformatics. Multiple kernel…

Machine Learning · Statistics 2024-12-04 Mitja Briscik , Gabriele Tazza , Marie-Agnes Dillies , László Vidács , Sébastien Dejean

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model…

Machine Learning · Computer Science 2017-03-10 Daniele Ramazzotti , Marco S. Nobile , Paolo Cazzaniga , Giancarlo Mauri , Marco Antoniotti

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

The identification of genetic signal regions in the human genome is critical for understanding the genetic architecture of complex traits and diseases. Numerous methods based on scan algorithms (i.e. QSCAN, SCANG, SCANG-STARR) have been…

Applications · Statistics 2025-01-24 Wei Zhang , Fan Wang , Fang Yao

Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms. We describe a…

Genomics · Quantitative Biology 2009-11-02 Aaron E. Darling , Bob Mau , Nicole T. Perna

A molecular and cellular understanding of how SARS-CoV-2 variably infects and causes severe COVID-19 remains a bottleneck in developing interventions to end the pandemic. We sought to use deep learning to study the biology of SARS-CoV-2…

Machine Learning · Computer Science 2020-12-16 Arijit Sehanobish , Neal G. Ravindra , David van Dijk

A key challenge in genomics is to identify genetic variants that distinguish patients with different survival time following diagnosis or treatment. While the log-rank test is widely used for this purpose, nearly all implementations of the…

Quantitative Methods · Quantitative Biology 2013-09-18 Fabio Vandin , Alexandra Papoutsaki , Benjamin J. Raphael , Eli Upfal

Next-generation sequencing technologies allow the measurement of somatic mutations in a large number of patients from the same cancer type. One of the main goals in analyzing these mutations is the identification of mutations associated…

Quantitative Methods · Quantitative Biology 2016-09-13 Tommy Hansen , Fabio Vandin

Causal discovery, the task of inferring causal structure from data, has the potential to uncover mechanistic insights from biological experiments, especially those involving perturbations. However, causal discovery algorithms over larger…

Machine Learning · Computer Science 2025-04-01 Menghua Wu , Yujia Bao , Regina Barzilay , Tommi Jaakkola

Recently developed technologies to generate single-cell genomic data have made a revolutionary impact in the field of biology. Multi-omics assays offer even greater opportunities to understand cellular states and biological processes.…

Genomics · Quantitative Biology 2022-01-19 Stefan Stanojevic , Yijun Li , Lana X. Garmire

The deadly coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has gone out of control globally. Despite much effort by scientists, medical experts, and society in general, the…

Biomolecules · Quantitative Biology 2021-02-02 Kaifu Gao , Rui Wang , Jiahui Chen , Limei Cheng , Jaclyn Frishcosy , Yuta Huzumi , Yuchi Qiu , Tom Schluckbier , Guo-Wei Wei

The complex correlation structure of a collection of orthologous DNA sequences is uniquely captured by the "ancestral recombination graph" (ARG), a complete record of coalescence and recombination events in the history of the sample.…

Populations and Evolution · Quantitative Biology 2013-12-04 Matthew D. Rasmussen , Melissa J. Hubisz , Ilan Gronau , Adam Siepel