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To recognize pathogens, B and T lymphocytes are endowed with a wide repertoire of receptors generated stochastically by V(D)J recombination. Measuring and estimating the diversity of these receptors is of great importance for understanding…

Populations and Evolution · Quantitative Biology 2020-11-20 Thierry Mora , Aleksandra Walczak

The antibody repertoire of each individual is continuously updated by the evolutionary process of B cell receptor mutation and selection. It has recently become possible to gain detailed information concerning this process through…

Populations and Evolution · Quantitative Biology 2015-05-11 Connor O. McCoy , Trevor Bedford , Vladimir N. Minin , Philip Bradley , Harlan Robins , Frederick A. Matsen

In microbiome and genomic studies, the regression of compositional data has been a crucial tool for identifying microbial taxa or genes that are associated with clinical phenotypes. To account for the variation in sequencing depth, the…

Methodology · Statistics 2021-03-11 Pixu Shi , Yuchen Zhou , Anru R. Zhang

The increasing availability of high throughput data arising from gene expression studies leads to the necessity of methods for summarizing the available information. As annotation quality improves it is becoming common to rely on the Gene…

Genomics · Quantitative Biology 2007-05-23 Alex Sanchez-Pla , Miquel Salicru , Jordi Ocanya

Retrieval-Augmented Large Language Models (LLMs), which integrate external knowledge, have shown remarkable performance in medical domains, including clinical diagnosis. However, existing RAG methods often struggle to tailor retrieval…

Computation and Language · Computer Science 2025-10-16 Jiawei He , Mingyi Jia , Zhihao Jia , Junwen Duan , Yan Song , Jianxin Wang

Genome-scale screening experiments in cancer produce long lists of candidate genes that require extensive interpretation for biological insight and prioritization for follow-up studies. Interrogation of gene lists frequently represents a…

Searching for local sequence patterns is one of the basic tasks in bioinformatics. Sequence patterns might have structural, functional or some other relevance, and numerous methods have been developed to detect and analyze them. These…

Quantitative Methods · Quantitative Biology 2018-08-01 Braslav Rabar , Strahil Ristov , Maja Zagorščak , Martin Rosenzweig , Pavle Goldstein

Motivation: High-throughput sequencing of large immune repertoires has enabled the development of methods to predict the probability of generation by V(D)J recombination of T- and B-cell receptors of any specific nucleotide sequence. These…

Genomics · Quantitative Biology 2020-11-20 Zachary Sethna , Yuval Elhanati , Curtis G. Callan , Aleksandra M. Walczak , Thierry Mora

Deep learning has achieved spectacular performance in image and speech recognition and synthesis. It outperforms other machine learning algorithms in problems where large amounts of data are available. In the area of measurement technology,…

Quantitative Methods · Quantitative Biology 2019-08-20 Yueqin Li , Ata Mahjoubfar , Claire Lifan Chen , Kayvan Reza Niazi , Li Pei , Bahram Jalali

T-cell receptors (TCRs) play a crucial role in the immune system by recognizing and binding to specific antigens presented by infected or cancerous cells. Understanding the sequence patterns of TCRs is essential for developing targeted…

Machine Learning · Computer Science 2024-08-05 Yicheng Lin , Dandan Zhang , Yun Liu

The adaptive immune system is a natural diagnostic and therapeutic. It recognizes threats earlier than clinical symptoms manifest and neutralizes antigen with exquisite specificity. Recognition specificity and broad reactivity is enabled…

Quantitative Methods · Quantitative Biology 2019-07-26 Alex J. Brown , Igor Snapkov , Rahmad Akbar , Milena Pavlović , Enkelejda Miho , Geir K. Sandve , Victor Greiff

A central question in human immunology is how a patient's repertoire of T cells impacts disease. Here, we introduce a method to infer the causal effects of T cell receptor (TCR) sequences on patient outcomes using observational TCR…

Machine Learning · Statistics 2024-10-21 Eli N. Weinstein , Elizabeth B. Wood , David M. Blei

We introduce an improved version of RECKONER, an error corrector for Illumina whole genome sequencing data. By modifying its workflow we reduce the computation time even 10 times. We also propose a new method of determination of $k$-mer…

Genomics · Quantitative Biology 2017-03-03 Maciej Dlugosz , Sebastian Deorowicz , Marek Kokot

Intercellular heterogeneity serves as both a confounding factor in studying individual clones and an information source in characterizing any heterogeneous tissues, such as blood, tumor systems. Due to inevitable sequencing errors and other…

Genomics · Quantitative Biology 2014-09-30 Guoqiang Yu , Roger R. Wang , Sean S. Wang , Niya Wang , Yue Wang

Identification of features is a critical task in microbiome studies that is complicated by the fact that microbial data are high dimensional and heterogeneous. Masked by the complexity of the data, the problem of separating signals from…

Methodology · Statistics 2020-09-18 Liangliang Zhang , Yushu Shi , Kim-Anh Do , Christine B. Peterson , Robert R. Jenq

We are frequently faced with a large collection of antibodies, and want to select those with highest affinity for their cognate antigen. When developing a first-line therapeutic for a novel pathogen, for instance, we might look for such…

Populations and Evolution · Quantitative Biology 2021-01-27 Duncan K. Ralph , Frederick A. Matsen

Biomarker discovery is vital in advancing personalized medicine, offering insights into disease diagnosis, prognosis, and therapeutic efficacy. Traditionally, the identification and validation of biomarkers heavily depend on extensive…

Machine Learning · Computer Science 2024-09-25 Wangyang Ying , Dongjie Wang , Xuanming Hu , Ji Qiu , Jin Park , Yanjie Fu

Quantitative analysis of large-scale data is often complicated by the presence of diverse subgroups, which reduce the accuracy of inferences they make on held-out data. To address the challenge of heterogeneous data analysis, we introduce…

Machine Learning · Computer Science 2021-09-01 Nazanin Alipourfard , Keith Burghardt , Kristina Lerman

Biomarker identification is critical for precise disease diagnosis and understanding disease pathogenesis in omics data analysis, like using fold change and regression analysis. Graph neural networks (GNNs) have been the dominant deep…

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro