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Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking…

定量方法 · 定量生物学 2013-07-31 Viraj Deshpande , Eric DK Fung , Son Pham , Vineet Bafna

Background: The short reads output by first- and second-generation DNA sequencing instruments cannot completely reconstruct microbial chromosomes. Therefore, most genomes have been left unfinished due to the significant resources required…

We introduce an improved version of RECKONER, an error corrector for Illumina whole genome sequencing data. By modifying its workflow we reduce the computation time even 10 times. We also propose a new method of determination of $k$-mer…

基因组学 · 定量生物学 2017-03-03 Maciej Dlugosz , Sebastian Deorowicz , Marek Kokot

RNA sequencing techniques, like bulk RNA-seq and Single Cell (sc) RNA-seq, are critical tools for the biologist looking to analyze the genetic activity/transcriptome of a tissue or cell during an experimental procedure. Platforms like…

基因组学 · 定量生物学 2024-07-08 Devam Mondal , Atharva Inamdar

Motivation: Illumina Sequencing data can provide high coverage of a genome by relatively short (100 bp150 bp) reads at a low cost. Our goal is to produce trimmed and error-corrected reads to improve genome assemblies. Our error correction…

基因组学 · 定量生物学 2013-07-15 Guillaume Marçais , James A. Yorke , Aleksey Zimin

Processing high-throughput DNA sequencing data of individuals or populations requires stringing together independent software tools with many parameters, often leading to non-reproducible pipelines and datasets. We developed grenepipe to…

基因组学 · 定量生物学 2025-01-09 Lucas Czech , Moises Exposito-Alonso

Motivation: The analysis of antibodies and T-cell receptors (TCRs) concentrations in serum is a fundamental problem in immunoinformatics. Repertoire construction is a preliminary step of analysis of clonal lineages, understanding of immune…

基因组学 · 定量生物学 2016-04-11 Alexander Shlemov , Sergey Bankevich , Andrey Bzikadze , Yana Safonova

Recent advances in next-generation sequencing have revolutionized genomic research. 16S rRNA amplicon sequencing using paired-end sequencing on the MiSeq platform from Illumina, Inc., is being used to characterize the composition and…

基因组学 · 定量生物学 2015-12-11 Hardik I. Parikh , Vishal N. Koparde , Steven P. Bradley , Gregory A. Buck , Nihar U. Sheth

Summary: FermiKit is a variant calling pipeline for Illumina data. It de novo assembles short reads and then maps the assembly against a reference genome to call SNPs, short insertions/deletions (INDELs) and structural variations (SVs).…

基因组学 · 定量生物学 2015-04-27 Heng Li

Sequence alignments are fundamental to bioinformatics which has resulted in a variety of optimized implementations. Unfortunately, the vast majority of them are hand-tuned and specific to certain architectures and execution models. This not…

分布式、并行与集群计算 · 计算机科学 2022-05-17 André Müller , Bertil Schmidt , Andreas Hildebrandt , Richard Membarth , Roland Leißa , Matthis Kruse , Sebastian Hack

We developed a low-cost, high-throughput microbiome profiling method that uses combinatorial sequence tags attached to PCR primers that amplify the rRNA V6 region. Amplified PCR products are sequenced using an Illumina paired-end protocol…

Comparing strains within the same microbial species has proven effective in the identification of genes and genomic regions responsible for virulence, as well as in the diagnosis and treatment of infectious diseases. In this paper, we…

定量方法 · 定量生物学 2013-07-31 Ilya Minkin , Anand Patel , Mikhail Kolmogorov , Nikolay Vyahhi , Son Pham

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

Numerous machine learning (ML) models employed in protein function and structure prediction depend on evolutionary information, which is captured through multiple-sequence alignments (MSA) or position-specific scoring matrices (PSSM) as…

计算工程、金融与科学 · 计算机科学 2024-01-17 Issar Arab

Background: With the rapid growth of massively parallel sequencing technologies, still more laboratories are utilizing sequenced DNA fragments for genomic analyses. Interpretation of sequencing data is, however, strongly dependent on…

De novo whole genome assembly reconstructs genomic sequence from short, overlapping, and potentially erroneous DNA segments and is one of the most important computations in modern genomics. This work presents HipMER, a high-quality…

分布式、并行与集群计算 · 计算机科学 2017-06-01 Evangelos Georganas , Steven Hofmeyr , Rob Egan , Aydin Buluc , Leonid Oliker , Daniel Rokhsar , Katherine Yelick

Recent advances in computational methods for designing biological sequences have sparked the development of metrics to evaluate these methods performance in terms of the fidelity of the designed sequences to a target distribution and their…

Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine. However, existing techniques for {\it de novo} genome assembly,…

Currently, third-generation sequencing techniques, which allow to obtain much longer DNA reads compared to the next-generation sequencing technologies, are becoming more and more popular. There are many possibilities to combine data from…

基因组学 · 定量生物学 2019-05-23 Wiktor Kuśmirek , Wiktor Franus , Robert Nowak

Motivation: Single Molecule Real-Time (SMRT) sequencing technology and Oxford Nanopore technologies (ONT) produce reads over 10kbp in length, which have enabled high-quality genome assembly at an affordable cost. However, at present, long…

基因组学 · 定量生物学 2017-08-07 Heng Li
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