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In addition to variation in terms of single nucleotide polymorphisms (SNPs), whole regions ranging from several kilobases up to a megabase in length differ in copy number among individuals. These differences are referred to as Copy Number…

Genomics · Quantitative Biology 2007-09-27 Philip M. Kim , Jan O. Korbel , Xueying Chen , Mark B. Gerstein

A critical step of genome sequence analysis is the mapping of sequenced DNA fragments (i.e., reads) collected from an individual to a known linear reference genome sequence (i.e., sequence-to-sequence mapping). Recent works replace the…

Semi-supervised learning (SSL) has been proven beneficial for mitigating the issue of limited labeled data especially on the task of volumetric medical image segmentation. Unlike previous SSL methods which focus on exploring highly…

Computer Vision and Pattern Recognition · Computer Science 2023-10-19 Qingjie Zeng , Yutong Xie , Zilin Lu , Mengkang Lu , Yong Xia

Repetitive DNA (repeats) poses significant challenges for accurate and efficient genome assembly and sequence alignment. This is particularly true for metagenomic data, where genome dynamics such as horizontal gene transfer, gene…

Machine Learning · Computer Science 2024-02-15 Ali Azizpour , Advait Balaji , Todd J. Treangen , Santiago Segarra

Genomic datasets generated with massively parallel sequencing methods have the potential to propel systematics in new and exciting directions, but selecting appropriate markers and methods is not straightforward. We applied two approaches…

Genomics · Quantitative Biology 2017-03-28 Michael G. Harvey , Brian Tilston Smith , Travis C. Glenn , Brant C. Faircloth , Robb T. Brumfield

Several modern genomic technologies, such as DNA-Methylation arrays, measure spatially registered probes that number in the hundreds of thousands across multiplechromosomes. The measured probes are by themselves less interesting…

Applications · Statistics 2016-11-16 John Nagorski , Genevera I. Allen

Microbial clades modeling is a challenging problem in biology based on microarray genome sequences, especially in new species gene isolates discovery and category. Marker family genome sequences play important roles in describing specific…

Quantitative Methods · Quantitative Biology 2019-04-22 Jingwei Liu

Motivation: Array Comparative Genomic Hybridization (aCGH) is used to scan the entire genome for variations in DNA copy number. A central task in the analysis of aCGH data is the segmentation into groups of probes sharing the same DNA copy…

Quantitative Methods · Quantitative Biology 2008-04-29 Erez Ben-Yaacov , Yonina Eldar

Genome sequence analysis plays a pivotal role in enabling many medical and scientific advancements in personalized medicine, outbreak tracing, and forensics. However, the analysis of genome sequencing data is currently bottlenecked by the…

Hardware Architecture · Computer Science 2021-11-04 Damla Senol Cali

(An updated version of this manuscript has been accepted to Scientific Reports in 2016, please refer to http://www.nature.com/articles/srep31900) The highly anticipated transition from next generation sequencing (NGS) to third generation…

Genomics · Quantitative Biology 2016-09-06 Chengxi Ye , Chris Hill , Shigang Wu , Jue Ruan , Zhanshan , Ma

Medical image segmentation plays a crucial role in computer-aided diagnosis. However, existing methods heavily rely on fully supervised training, which requires a large amount of labeled data with time-consuming pixel-wise annotations.…

Computer Vision and Pattern Recognition · Computer Science 2024-09-04 Yunqi Gu , Tao Zhou , Yizhe Zhang , Yi Zhou , Kelei He , Chen Gong , Huazhu Fu

Type-4 clones refer to a pair of code snippets with similar semantics but written in different syntax, which challenges the existing code clone detection techniques. Previous studies, however, highly rely on syntactic structures and textual…

Software Engineering · Computer Science 2022-06-29 Zhipeng Xue , Zhijie Jiang , Chenlin Huang , Rulin Xu , Xiangbing Huang , Liumin Hu

Intercellular heterogeneity serves as both a confounding factor in studying individual clones and an information source in characterizing any heterogeneous tissues, such as blood, tumor systems. Due to inevitable sequencing errors and other…

Genomics · Quantitative Biology 2014-09-30 Guoqiang Yu , Roger R. Wang , Sean S. Wang , Niya Wang , Yue Wang

Reconciling gene trees with a species tree is a fundamental problem to understand the evolution of gene families. Many existing approaches reconcile each gene tree independently. However, it is well-known that the evolution of gene families…

Populations and Evolution · Quantitative Biology 2018-06-12 Riccardo Dondi , Manuel Lafond , Celine Scornavacca

This work presents a novel framework for few-shot 3D part segmentation. Recent advances have demonstrated the significant potential of 2D foundation models for low-shot 3D part segmentation. However, it is still an open problem that how to…

Computer Vision and Pattern Recognition · Computer Science 2025-12-19 Yueyang Hu , Haiyong Jiang , Haoxuan Song , Jun Xiao , Hao Pan

Satellite DNA are long tandemly repeating sequences in a genome and may be organized as high-order repeats (HORs). They are enriched in centromeres and are challenging to assemble. Existing algorithms for identifying satellite repeats…

Genomics · Quantitative Biology 2023-04-20 Yujie Zhang , Justin Chu , Haoyu Cheng , Heng Li

Labeling of DNA molecules is a fundamental technique for DNA visualization and analysis. This process was mathematically modeled in [1], where the received sequence indicates the positions of the used labels. In this work, we develop error…

Information Theory · Computer Science 2025-11-04 Dganit Hanania , Eitan Yaakobi

Graph anomaly detection (GAD) is a challenging binary classification problem due to its different structural distribution between anomalies and normal nodes -- abnormal nodes are a minority, therefore holding high heterophily and low…

Machine Learning · Computer Science 2024-01-26 Yuan Gao , Xiang Wang , Xiangnan He , Zhenguang Liu , Huamin Feng , Yongdong Zhang

Single-cell sequencing has a significant role to explore biological processes such as embryonic development, cancer evolution, and cell differentiation. These biological properties can be presented by a two-dimensional scatter plot.…

Genomics · Quantitative Biology 2021-10-19 Ziyi Liu , Minghui Liao , Fulin luo , Bo Du

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
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