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ChIP-seq, which combines chromatin immunoprecipitation with massively parallel short-read sequencing, can profile in vivo genome-wide transcription factor-DNA association with higher sensitivity, specificity and spatial resolution than…

Genomics · Quantitative Biology 2009-03-19 Xuekui Zhang , Gordon Robertson , Martin Krzywinski , Kaida Ning , Arnaud Droit , Steven Jones , Raphael Gottardo

RNA-Seq is a widely-used method for studying the behavior of genes under different biological conditions. An essential step in an RNA-Seq study is normalization, in which raw data are adjusted to account for factors that prevent direct…

Genomics · Quantitative Biology 2016-09-06 Ciaran Evans , Johanna Hardin , Daniel Stoebel

Motivation: Histone modification constitutes a basic mechanism for the genetic regulation of gene expression. In early 2000s, a powerful technique has emerged that couples chromatin immunoprecipitation with high-throughput sequencing…

Quantitative Methods · Quantitative Biology 2020-12-16 Arnaud Liehrmann , Guillem Rigaill , Toby Dylan Hocking

Estimating and testing for differences in molecular phenotypes (e.g. gene expression, chromatin accessibility, transcription factor binding) across conditions is an important part of understanding the molecular basis of gene regulation.…

A topological multiple testing approach to peak detection is proposed for the problem of detecting transcription factor binding sites in ChIP-Seq data. After kernel smoothing of the tag counts over the genome, the presence of a peak is…

Applications · Statistics 2013-05-29 Armin Schwartzman , Andrew Jaffe , Yulia Gavrilov , Clifford A. Meyer

RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

Background: High-throughput techniques bring novel tools but also statistical challenges to genomic research. Identifying genes with differential expression between different species is an effective way to discover evolutionarily conserved…

Methodology · Statistics 2018-10-05 Yan Zhou , Jiadi Zhu , Tiejun Tong , Junhui Wang , Bingqing Lin , Jun Zhang

Chromatin immunoprecipitation combined with DNA microarrays (ChIP-chip) is an assay for DNA-protein-binding or post-translational chromatin/histone modifications. As with all high-throughput technologies, it requires a thorough…

Quantitative Methods · Quantitative Biology 2009-10-20 Benedikt Zacher , Achim Tresch

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

Genome-wide analysis of distributions of densities of long-range interactions of human chromosomes with each other, nucleoli, nuclear lamina, and binding sites of chromatin state regulatory proteins, CTCF and STAT1, identifies non-random…

Genomics · Quantitative Biology 2014-01-13 Gennadi V. Glinsky

RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

In an era where symbolic mathematical equations are indispensable for modeling complex natural phenomena, scientific inquiry often involves collecting observations and translating them into mathematical expressions. Recently, deep learning…

Machine Learning · Computer Science 2024-03-18 Kazem Meidani , Parshin Shojaee , Chandan K. Reddy , Amir Barati Farimani

We present a new algorithm for the identification of bound regions from ChIP-seq experiments. Our method for identifying statistically significant peaks from read coverage is inspired by the notion of persistence in topological data…

Genomics · Quantitative Biology 2010-05-06 Valerie Hower , Steven N. Evans , Lior Pachter

Many peak detection algorithms have been proposed for ChIP-seq data analysis, but it is not obvious which method and what parameters are optimal for any given data set. In contrast, peaks can easily be located by visual inspection of…

Genomics · Quantitative Biology 2014-09-23 Toby Dylan Hocking , Patricia Goerner-Potvin , Andreanne Morin , Xiaojian Shao , Guillaume Bourque

It has been rightfully emphasized that the use of AI for clinical decision making could amplify health disparities. An algorithm may encode protected characteristics, and then use this information for making predictions due to undesirable…

Machine Learning · Computer Science 2022-07-22 Ben Glocker , Charles Jones , Melanie Bernhardt , Stefan Winzeck

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

High-throughput chromatin conformation capture (Hi-C) data provide insights into the 3D structure of chromosomes, with normalization being a crucial pre-processing step. A common technique for normalization is matrix balancing, which…

Applications · Statistics 2025-06-17 John Park , Ning Hao , Yue Selena Niu , Ming Hu

Discrete biomarkers derived as cell densities or counts from tissue microarrays and immunostaining are widely used to study immune signatures in relation to survival outcomes in cancer. Although routinely collected, these signatures are not…

Large-scale statistical analysis of data sets associated with genome sequences plays an important role in modern biology. A key component of such statistical analyses is the computation of $p$-values and confidence bounds for statistics…

Applications · Statistics 2011-01-06 Peter J. Bickel , Nathan Boley , James B. Brown , Haiyan Huang , Nancy R. Zhang

CLIP-seq methods are valuable techniques to experimentally determine transcriptome-wide binding sites of RNA-binding proteins. Despite the constant improvement of such techniques (e.g. eCLIP), the results are affected by various types of…

Biomolecules · Quantitative Biology 2024-12-31 Gianluca Corrado , Michael Uhl , Rolf Backofen , Andrea Passerini , Fabrizio Costa
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