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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

Many researches demonstrated that the DNA methylation, which occurs in the context of a CpG, has strong correlation with diseases, including cancer. There is a strong interest in analyzing the DNA methylation data to find how to distinguish…

Genomics · Quantitative Biology 2020-01-29 Hong Yu , Zhanyu Ma

DNA minicircles are closed double-stranded DNA (dsDNA) fragments that have been demonstrated to be an important experimental tool to understand supercoiled, or stressed, DNA mechanics, such as nucleosome positioning and DNA-protein…

Biomolecules · Quantitative Biology 2024-11-12 Raushan Singh , Jaroslaw Glowacki , Marius Beaud , Federica Padovano , Robert S. Manning , John H. Maddocks

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao

Gene-gene interactions play a crucial role in the manifestation of complex human diseases. Uncovering significant gene-gene interactions is a challenging task. Here, we present an innovative approach utilizing data-driven computational…

Artificial Intelligence · Computer Science 2024-10-22 Yifan Wu , Yuntao Yang , Zirui Liu , Zhao Li , Khushbu Pahwa , Rongbin Li , Wenjin Zheng , Xia Hu , Zhaozhuo Xu

In biotechnology Raman Spectroscopy is rapidly gaining popularity as a process analytical technology (PAT) that measures cell densities, substrate- and product concentrations. As it records vibrational modes of molecules it provides that…

A number of bioinformatic or biostatistical methods are available for analyzing DNA copy number profiles measured from microarray or sequencing technologies. In the absence of rich enough gold standard data sets, the performance of these…

Quantitative Methods · Quantitative Biology 2015-11-06 Morgane Pierre-Jean , Guillem Rigaill , Pierre Neuvial

Colorectal cancer remains a major global health concern, with early detection being pivotal for improving patient outcomes. In this study, we leveraged high throughput methylation profiling of cellfree DNA to identify and validate…

Genomics · Quantitative Biology 2025-05-19 Kartavya Mathur , Shipra Jain , Nisha Bajiya , Nishant Kumar , Gajendra P. S. Raghava

Using state-of-the-art techniques combining imaging methods and high-throughput genomic mapping tools leaded to the significant progress in detailing chromosome architecture of various organisms. However, a gap still remains between the…

Quantitative Methods · Quantitative Biology 2018-03-28 V. R. Chechetkin , V. V. Lobzin

Multiplex and multi-directional control of metabolic pathways is crucial for metabolic engineering to improve product yield of fuels, chemicals, and pharmaceuticals. To achieve this goal, artificial transcriptional regulators such as…

Biomolecules · Quantitative Biology 2017-04-12 Jiayuan Sheng , Weihua Guo , Christine Ash , Brendan Freitas , Mitchell Paoletti , Xueyang Feng

Deep sequencing has become one of the most popular tools for transcriptome profiling in biomedical studies. While an abundance of computational methods exists for "normalizing" sequencing data to remove unwanted between-sample variations…

Genomics · Quantitative Biology 2022-01-14 Yannick Düren , Johannes Lederer , Li-Xuan Qin

Background:Gene regulations often change over time rather than being constant. But many of gene regulatory networks extracted from databases are static. The tumor suppressor gene $P53$ is involved in the pathogenesis of many tumors, and its…

Molecular Networks · Quantitative Biology 2021-11-02 Ruijie Xu , Lin Zhang , Yu Chen

Modern cancer genomics datasets involve widely varying sizes and scales, measurement variables, and correlation structures. A fundamental analytical goal in these high-throughput studies is the development of general statistical techniques…

Methodology · Statistics 2022-04-12 Chiyu Gu , Veerabhadran Baladandayuthapani , Subharup Guha

DNA methylation is a well-studied genetic modification that regulates gene transcription of Eukaryotes. Its alternations have been recognized as a significant component of cancer development. In this study, we use the DNA methylation 450k…

Tissues and Organs · Quantitative Biology 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

Motivation: Although principal component analysis (PCA) is widely used for the dimensional reduction of biomedical data, interpretation of PCA results remains daunting. Most existing methods attempt to explain each principal component (PC)…

Quantitative Methods · Quantitative Biology 2015-08-24 H. Robert Frost , Zhigang Li , Jason H. Moore

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Until recently, transcriptomics was limited to bulk RNA sequencing, obscuring the underlying expression patterns of individual cells in favor of a global average. Thanks to technological advances, we can now profile gene expression across…

Quantitative Methods · Quantitative Biology 2018-11-30 Miriam Shiffman , William T. Stephenson , Geoffrey Schiebinger , Jonathan Huggins , Trevor Campbell , Aviv Regev , Tamara Broderick

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

DNA microarrays are a relatively new technology that can simultaneously measure the expression level of thousands of genes. They have become an important tool for a wide variety of biological experiments. One of the most common goals of DNA…

Methodology · Statistics 2013-07-02 Eric Bair

Motivation: Alternative splicing is an important mechanism in which the regions of pre-mRNAs are differentially joined in order to form different transcript isoforms. Alternative splicing is involved in the regulation of normal…

Quantitative Methods · Quantitative Biology 2016-05-26 Hande Topa , Antti Honkela