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Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical…

基因组学 · 定量生物学 2015-06-15 Uma Paila , Brad Chapman , Rory Kirchner , Aaron Quinlan

We study the problem of similarity detection by sequence alignment with gaps, using a recently established theoretical framework based on the morphology of alignment paths. Alignments of sequences without mutual correlations are found to…

生物物理 · 物理学 2009-09-25 Dirk Drasdo , Terence Hwa , Michael Lassig

Sequence comparison across multiple organisms aids in the detection of regions under selection. However, resource limitations require a prioritization of genomes to be sequenced. This prioritization should be grounded in two considerations:…

基因组学 · 定量生物学 2007-05-23 Jon D. McAuliffe , Michael I. Jordan , Lior Pachter

Understanding functional organization of genetic information is a major challenge in modern biology. Following the initial publication of the human genome sequence in 2001, advances in high-throughput measurement technologies and efficient…

机器学习 · 统计学 2011-03-01 Leo Lahti

This issue includes six articles that develop and apply statistical methods for the analysis of gene sequencing data of different types. The methods are tailored to the different data types and, in each case, lead to biological insights not…

应用统计 · 统计学 2012-06-29 Karen Kafadar

The ongoing explosion of genome sequence data is transforming how we reconstruct and understand the histories of biological systems. Across biological scales, from individual cells to populations and species, trees-based models provide a…

种群与进化 · 定量生物学 2025-12-08 Yun Deng , Shing H. Zhan , Yulin Zhang , Chao Zhang , Bingjie Chen

Clusters of genes that have evolved by repeated segmental duplication present difficult challenges throughout genomic analysis, from sequence assembly to functional analysis. Improved understanding of these clusters is of utmost importance,…

机器学习 · 计算机科学 2010-01-25 Tomáš Vinař , Broňa Brejová , Giltae Song , Adam Siepel

Microbes are essentially yet convolutedly linked with human lives on the earth. They critically interfere in different physiological processes and thus influence overall health status. Studying microbial species is used to be constrained to…

基因组学 · 定量生物学 2021-09-03 Chao Yang , Debajyoti Chowdhury , Zhenmiao Zhang , William K. Cheung , Aiping Lu , Zhao Xiang Bian , Lu Zhang

We define several new models for how to define anomalous regions among enormous sets of trajectories. These are based on spatial scan statistics, and identify a geometric region which captures a subset of trajectories which are…

数据结构与算法 · 计算机科学 2019-06-06 Michael Matheny , Dong Xie , Jeff M. Phillips

Cellular heterogeneity is important to biological processes, including cancer and development. However, proteome heterogeneity is largely unexplored because of the limitations of existing methods for quantifying protein levels in single…

基因组学 · 定量生物学 2018-10-29 Bogdan Budnik , Ezra Levy , Guillaume Harmange , Nikolai Slavov

In recent years, Whole Genome Sequencing (WGS) evolved from a futuristic-sounding research project to an increasingly affordable technology for determining complete genome sequences of complex organisms, including humans. This prompts a…

密码学与安全 · 计算机科学 2015-02-17 Erman Ayday , Emiliano De Cristofaro , Jean-Pierre Hubaux , Gene Tsudik

We have used the Penna ageing model to analyze how the differences in evolution of sex chromosomes depend on the strategy of reproduction. In panmictic populations, when females (XX) can freely choose the male partner (XY) for reproduction…

种群与进化 · 定量生物学 2008-11-03 Przemyslaw Biecek , Stanislaw Cebrat

Phylogenetic reconstruction aims at finding plausible hypotheses of the evolutionary history of genes or species based on genomic sequence information. The distinction of orthologous genes (genes that having a common ancestry and diverged…

种群与进化 · 定量生物学 2016-02-29 Marc Hellmuth , Nicolas Wieseke

Herein it is shown that in order to study the statistical properties of DNA sequences in bacterial chromosomes it suffices to consider only one half of the chromosome because they are similar to its corresponding complementary sequence in…

基因组学 · 定量生物学 2009-11-10 Marco V. Jose , Tzipe Govezensky , Juan R. Bobadilla

Motivation: The comparison of diverse genomic datasets is fundamental to understanding genome biology. Researchers must explore many large datasets of genome intervals (e.g., genes, sequence alignments) to place their experimental results…

基因组学 · 定量生物学 2012-08-20 Ryan M. Layer , Kevin Skadron , Gabriel Robins , Ira M. Hall , Aaron R. Quinlan

Menstrual cycle length and regularity are important vital signs with implications for a variety of acute and chronic health conditions. Large datasets derived from cycle-tracking mobile health apps are being used to investigate the effects…

Eliciting preferences from human judgements is inherently imprecise, yet most decision analysis methods force a single priority vector from pairwise comparisons, discarding the information embedded in inconsistencies. We instead leverage…

综合经济学 · 经济学 2026-02-27 Salvatore Greco , Sajid Siraj , Michele Lundy

Conformal inference is a method that provides prediction sets for machine learning models, operating independently of the underlying distributional assumptions and relying solely on the exchangeability of training and test data. Despite its…

统计方法学 · 统计学 2025-10-01 Daniela Corbetta , Livio Finos , Ludwig Geistlinger , Davide Risso

Single-cell RNA sequencing (scRNA-seq) reveals cell heterogeneity, with cell clustering playing a key role in identifying cell types and marker genes. Recent advances, especially graph neural networks (GNNs)-based methods, have…

基因组学 · 定量生物学 2025-10-03 Ping Xu , Zhiyuan Ning , Pengjiang Li , Wenhao Liu , Pengyang Wang , Jiaxu Cui , Yuanchun Zhou , Pengfei Wang

Scattering obscures information carried by wave by producing a speckle pattern, posing a common challenge across various fields, including microscopy and astronomy. Traditional methods for extracting information from speckles often rely on…