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Generative models can produce synthetic patient records for analytical tasks when real data is unavailable or limited. However, current methods struggle with adhering to domain-specific knowledge and removing invalid data. We present…

Machine Learning · Computer Science 2023-12-22 Brandon Theodorou , Shrusti Jain , Cao Xiao , Jimeng Sun

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate genotypes may not be easily obtained (e.g. multi-sample…

Genomics · Quantitative Biology 2013-03-19 Heng Li

Successful sequencing experiments require judicious sample selection. However, this selection must often be performed on the basis of limited preliminary data. Predicting the statistical properties of the final sample based on preliminary…

Genomics · Quantitative Biology 2014-03-17 Simon Gravel , NHLBI GO Exome Sequencing Project

Evolutionary relationships among birds in Neoaves, the clade comprising the vast majority of avian diversity, have vexed systematists due to the ancient, rapid radiation of numerous lineages. We applied a new phylogenomic approach to…

High read depth can be used to assemble short sequence repeats. The existing genome assemblers fail in repetitive regions of longer than average read. I propose a new algorithm for a DNA assembly which uses the relative frequency of reads…

Genomics · Quantitative Biology 2015-01-08 Robert M. Nowak

Sequencing by Emergence (SEQE) is a new single-molecule nucleic acid (DNA/RNA) sequencing technology that estimates sequence as an emergent property of the binding and localization of a repertoire of short oligonucleotide probes. SEQE…

Genomics · Quantitative Biology 2021-08-04 Nicholas Boyd , Samuel Woodhouse , Kalim Mir

The alignment of biological sequences such as DNA, RNA, and proteins, is one of the basic tools that allow to detect evolutionary patterns, as well as functional/structural characterizations between homologous sequences in different…

Quantitative Methods · Quantitative Biology 2023-05-01 Louise Budzynski , Andrea Pagnani

The prediction of phenotypic traits using high-density genomic data has many applications such as the selection of plants and animals of commercial interest; and it is expected to play an increasing role in medical diagnostics. Statistical…

Methodology · Statistics 2016-09-29 Marco Scutari , Ian Mackay , David Balding

Gene annotation has traditionally required direct comparison of DNA sequences between an unknown gene and a database of known ones using string comparison methods. However, these methods do not provide useful information when a gene does…

Machine Learning · Computer Science 2019-09-17 James K. Senter , Taylor M. Royalty , Andrew D. Steen , Amir Sadovnik

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

The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

A phylogeny describes the evolutionary history of an evolving population. Evolutionary search algorithms can perfectly track the ancestry of candidate solutions, illuminating a population's trajectory through the search space. However,…

Neural and Evolutionary Computing · Computer Science 2024-02-05 Alexander Lalejini , Marcos Sanson , Jack Garbus , Matthew Andres Moreno , Emily Dolson

Recent studies in DNA sequence classification have leveraged sophisticated machine learning techniques, achieving notable accuracy in categorizing complex genomic data. Among these, methods such as k-mer counting have proven effective in…

Genomics · Quantitative Biology 2024-01-26 Şükrü Ozan

Ancestral sequence reconstruction is a key task in computational biology. It consists in inferring a molecular sequence at an ancestral species of a known phylogeny, given descendant sequences at the tip of the tree. In addition to its many…

Populations and Evolution · Quantitative Biology 2022-07-27 Brandon Legried , Sebastien Roch

Rate variation among the sites of a molecular sequence is commonly found in applications of phylogenetic inference. Several approaches exist to account for this feature but they do not usually enable the investigator to pinpoint the sites…

Quantitative Methods · Quantitative Biology 2013-05-23 Elisa Loza-Reyes , Merrilee Hurn , Tony Robinson

In recent years, advances in high throughput sequencing technology have led to a need for specialized methods for the analysis of digital gene expression data. While gene expression data measured on a microarray take on continuous values…

Applications · Statistics 2012-02-29 Daniela M. Witten

We develop statistically based methods to detect single nucleotide DNA mutations in next generation sequencing data. Sequencing generates counts of the number of times each base was observed at hundreds of thousands to billions of genome…

Applications · Statistics 2012-10-01 Omkar Muralidharan , Georges Natsoulis , John Bell , Hanlee Ji , Nancy R. Zhang

Robotic and animal mapping systems share many of the same objectives and challenges, but differ in one key aspect: where much of the research in robotic mapping has focused on solving the data association problem, the grid cell neurons…

Computer Vision and Pattern Recognition · Computer Science 2018-10-24 Huu Le , Michael Milford

A phylogenetic tree is an important way in Bioinformatics to find the evolutionary relationship among biological species. In this research, a proposed model is described for the estimation of a phylogenetic tree for a given set of data. To…

Populations and Evolution · Quantitative Biology 2025-09-03 S M Rafiuddin

The rapid development of high-throughput sequencing technologies has led to an explosive increase in biological sequence data, making sequence clustering a fundamental task in large-scale bioinformatics analyses. Unlike traditional…

Genomics · Quantitative Biology 2026-01-22 Simeng Zhang , Xinying Liu , Jun Lou , Mudi Jiang , Quan Zou , Zengyou He