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Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

Methodology · Statistics 2013-07-30 Heejung Shim , Matthew Stephens

Single-cell RNA-sequencing (scRNA-seq) has become a routinely used technique to quantify the gene expression profile of thousands of single cells simultaneously. Analysis of scRNA-seq data plays an important role in the study of cell states…

Genomics · Quantitative Biology 2022-10-13 Matthew Brendel , Chang Su , Zilong Bai , Hao Zhang , Olivier Elemento , Fei Wang

Recent developments in extracting and processing biological and clinical data are allowing quantitative approaches to studying living systems. High-throughput sequencing, expression profiles, proteomics, and electronic health records are…

Quantitative Methods · Quantitative Biology 2010-10-22 Vladimir Trifonov , Laura Pasqualucci , Riccardo Dalla-Favera , Raul Rabadan

Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

This article presents results of experimental studies the effectiveness of the genetic algorithm that was applied to effective queries creation and relevant document selection. Studies were carried out to the comparative analysis of the…

Information Retrieval · Computer Science 2015-04-06 V. K. Ivanov , B. V. Palyukh

The problem addressed here is that of simultaneous treatment of several gene expression datasets, possibly collected under different experimental conditions and/or platforms. Using robust statistics, a large scale statistical analysis has…

Methodology · Statistics 2014-10-10 Bernard Ycart , Konstantina Charmpi , Sophie Rousseaux , Jean-Jacques Fournié

Processing large complex networks recently attracted considerable interest. Complex graphs are useful in a wide range of applications from technological networks to biological systems like the human brain. Sometimes these networks are…

Data Structures and Algorithms · Computer Science 2019-12-03 Christian Schulz

Large language models (LLMs) have shown impressive performance in \emph{code} understanding and generation, making coding tasks a key focus for researchers due to their practical applications and value as a testbed for LLM evaluation. Data…

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,…

Machine Learning · Computer Science 2010-01-25 Tomáš Vinař , Broňa Brejová , Giltae Song , Adam Siepel

Progress in Whole Genome Sequencing (WGS) will soon allow a large number of individuals to have their genome fully sequenced. This lays the foundations to improve modern healthcare, enabling a new era of personalized medicine where…

Cryptography and Security · Computer Science 2014-02-03 Emiliano De Cristofaro

Modern high-throughput gene perturbation screens are key technologies at the forefront of genetic research. Combined with rich phenotypic descriptors they enable researchers to observe detailed cellular reactions to experimental…

Molecular Networks · Quantitative Biology 2010-10-08 Florian Markowetz

Current techniques in sequencing a genome allow a service provider (e.g. a sequencing company) to have full access to the genome information, and thus the privacy of individuals regarding their lifetime secret is violated. In this paper, we…

Genomics · Quantitative Biology 2018-11-28 Ali Gholami , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call…

Much of the on-going statistical analysis of DNA sequences is focused on the estimation of characteristics of coding and non-coding regions that would possibly allow discrimination of these regions. In the current approach, we concentrate…

Genomics · Quantitative Biology 2009-11-10 D. Kugiumtzis , A. Provata

Genotype networks are a method used in systems biology to study the "innovability" of a set of genotypes having the same phenotype. In the past they have been applied to determine the genetic heterogeneity, and stability to mutations, of…

Populations and Evolution · Quantitative Biology 2015-06-17 Giovanni Marco Dall'Olio , Jaume Bertranpetit , Andreas Wagner , Hafid Laayouni

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…

Genomics · Quantitative Biology 2021-09-03 Chao Yang , Debajyoti Chowdhury , Zhenmiao Zhang , William K. Cheung , Aiping Lu , Zhao Xiang Bian , Lu Zhang

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

Data mining environment produces a large amount of data, that need to be analyzed, patterns have to be extracted from that to gain knowledge. In this new era with boom of data both structured and unstructured, in the field of genomics,…

Databases · Computer Science 2013-07-23 Chanchal Yadav , Shuliang Wang , Manoj Kumar

In recent years, the advances in single-cell RNA-seq techniques have enabled us to perform large-scale transcriptomic profiling at single-cell resolution in a high-throughput manner. Unsupervised learning such as data clustering has become…

Genomics · Quantitative Biology 2020-01-07 Shixiong Zhang , Xiangtao Li , Qiuzhen Lin , Ka-Chun Wong

Genomic signal processing has been used successfully in bioinformatics to analyze biomolecular sequences and gain varied insights into DNA structure, gene organization, protein binding, sequence evolution, etc. But challenges remain in…

Genomics · Quantitative Biology 2022-11-04 Saish Jaiswal , Shreya Nema , Hema A Murthy , Manikandan Narayanan
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