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The main challenge in de novo assembly of NGS data is certainly to deal with repeats that are longer than the reads. This is particularly true for RNA- seq data, since coverage information cannot be used to flag repeated sequences, of which…

Data Structures and Algorithms · Computer Science 2014-06-05 Gustavo Sacomoto , Blerina Sinaimeri , Camille Marchet , Vincent Miele , Marie-France Sagot , Vincent Lacroix

Motivation: RNA-seq has made feasible the analysis of a whole set of expressed mRNAs. Mapping-based assembly of RNA-seq reads sometimes is infeasible due to lack of high-quality references. However, de novo assembly is very challenging due…

Genomics · Quantitative Biology 2015-06-19 Qingming Tang , Sheng Wang , Jian Peng , Jianzhu Ma , Jinbo Xu

We present Quip, a lossless compression algorithm for next-generation sequencing data in the FASTQ and SAM/BAM formats. In addition to implementing reference-based compression, we have developed, to our knowledge, the first assembly-based…

Quantitative Methods · Quantitative Biology 2012-07-11 Daniel C. Jones , Walter L. Ruzzo , Xinxia Peng , Michael G. Katze

This paper provides a framework in order to statistically model sequences from human genome, which is allowing a formulation to synthesize gene sequences. We start by converting the alphabetic sequence of genome to decimal sequence by…

Other Quantitative Biology · Quantitative Biology 2019-08-12 Salman Mohamadi , Farhang Yeganegi , Hamidreza Amindavar

Motivation: Eugene Myers in his string graph paper (Myers, 2005) suggested that in a string graph or equivalently a unitig graph, any path spells a valid assembly. As a string/unitig graph also encodes every valid assembly of reads, such a…

Genomics · Quantitative Biology 2012-05-11 Heng Li

Non-native conformations drive protein misfolding diseases, complicate bioengineering efforts, and fuel molecular evolution. No current experimental technique is well-suited for elucidating them and their phenotypic effects. Especially…

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

Long reads produced by third-generation sequencing technologies are used to construct an assembly (i.e., the subject's genome), which is further used in downstream genome analysis. Unfortunately, long reads have high sequencing error rates…

Genomics · Quantitative Biology 2020-10-29 Can Firtina , Jeremie S. Kim , Mohammed Alser , Damla Senol Cali , A. Ercument Cicek , Can Alkan , Onur Mutlu

The first step in any genome assembly algorithm entails the conversion from the domain of strings and overlaps to the language of graphs and paths, typically using one of the two conventional methods: de Bruijn graphs or overlap graphs.…

Genomics · Quantitative Biology 2026-04-27 Anton Bankevich

(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

Graph is a fundamental mathematical structure in characterizing relations between different objects and has been widely used on various learning tasks. Most methods implicitly assume a given graph to be accurate and complete. However, real…

Machine Learning · Computer Science 2024-03-07 Xuanting Xie , Zhao Kang , Wenyu Chen

Reconstructing components of a genomic mixture from data obtained by means of DNA sequencing is a challenging problem encountered in a variety of applications including single individual haplotyping and studies of viral communities.…

Genomics · Quantitative Biology 2019-11-14 Ziqi Ke , Haris Vikalo

De novo genome assembly, i.e., rebuilding the sequence of an unknown genome from redundant and erroneous short sequences, is a key but computationally intensive step in many genomics pipelines. The exponential growth of genomic data is…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-07-12 Giulia Guidi , Gabriel Raulet , Daniel Rokhsar , Leonid Oliker , Katherine Yelick , Aydin Buluc

In this paper, we propose a semi-supervised deep learning method for detecting the specific types of reads that impede the de novo genome assembly process. Instead of dealing directly with sequenced reads, we analyze their coverage graphs…

Machine Learning · Computer Science 2019-04-24 Tomislav Šebrek , Jan Tomljanović , Josip Krapac , Mile Šikić

Recently, haplo-identical transplantation with multiple HLA mismatches has become a viable option for system cell transplants. Haplotype sharing detection requires imputation of donor and recipient. We show that even in high-resolution…

Quantitative Methods · Quantitative Biology 2022-08-12 Zuriya Ansbacher-Feldman , Sapir Israeli , Martin Maiers , Loren Gragert , Dianne De Santis , Moshe Israeli , Yoram Louzoun

Sorting atoms stochastically loaded in optical tweezer arrays via an auxiliary mobile tweezer is an efficient approach to preparing intermediate-scale defect-free atom arrays in arbitrary geometries. However, high filling fraction of…

Quantum Physics · Physics 2021-04-07 Cheng Sheng , Jiayi Hou , Xiaodong He , Peng Xu , Kunpeng Wang , Jun Zhuang , Xiao Li , Min Liu , Jin Wang , Mingsheng Zhan

The discovery of disease biomarkers from gene expression data has been greatly advanced by feature selection (FS) methods, especially using ensemble FS (EFS) strategies with perturbation at the data level (i.e., homogeneous, Hom-EFS) or…

Machine Learning · Computer Science 2021-08-03 Felipe Colombelli , Thayne Woycinck Kowalski , Mariana Recamonde-Mendoza

Single individual haplotyping is an NP-hard problem that emerges when attempting to reconstruct an organism's inherited genetic variations using data typically generated by high-throughput DNA sequencing platforms. Genomes of diploid…

Machine Learning · Computer Science 2019-09-04 Somsubhra Barik , Haris Vikalo

Motivation: A pan-genome graph represents a collection of genomes and encodes sequence variations between them. It is a powerful data structure for studying multiple similar genomes. Sequence-to-graph alignment is an essential step for the…

Genomics · Quantitative Biology 2022-06-29 Haowen Zhang , Shiqi Wu , Srinivas Aluru , Heng Li

Hypergraphs provide a superior modeling framework for representing complex multidimensional relationships in the context of real-world interactions that often occur in groups, overcoming the limitations of traditional homogeneous graphs.…

Machine Learning · Computer Science 2025-02-13 Daeyoung Roh , Donghee Han , Daehee Kim , Keejun Han , Mun Yi