DNAscan: personal computer compatible NGS analysis, annotation and visualisation.

Abstract:

BACKGROUND:Next Generation Sequencing (NGS) is a commonly used technology for studying the genetic basis of biological processes and it underpins the aspirations of precision medicine. However, there are significant challenges when dealing with NGS data. Firstly, a huge number of bioinformatics tools for a wide range of uses exist, therefore it is challenging to design an analysis pipeline. Secondly, NGS analysis is computationally intensive, requiring expensive infrastructure, and many medical and research centres do not have adequate high performance computing facilities and cloud computing is not always an option due to privacy and ownership issues. Finally, the interpretation of the results is not trivial and most available pipelines lack the utilities to favour this crucial step. RESULTS:We have therefore developed a fast and efficient bioinformatics pipeline that allows for the analysis of DNA sequencing data, while requiring little computational effort and memory usage. DNAscan can analyse a whole exome sequencing sample in 1 h and a 40x whole genome sequencing sample in 13 h, on a midrange computer. The pipeline can look for single nucleotide variants, small indels, structural variants, repeat expansions and viral genetic material (or any other organism). Its results are annotated using a customisable variety of databases and are available for an on-the-fly visualisation with a local deployment of the gene.iobio platform. DNAscan is implemented in Python. Its code and documentation are available on GitHub: https://github.com/KHP-Informatics/DNAscan . Instructions for an easy and fast deployment with Docker and Singularity are also provided on GitHub. CONCLUSIONS:DNAscan is an extremely fast and computationally efficient pipeline for analysis, visualization and interpretation of NGS data. It is designed to provide a powerful and easy-to-use tool for applications in biomedical research and diagnostic medicine, at minimal computational cost. Its comprehensive approach will maximise the potential audience of users, bringing such analyses within the reach of non-specialist laboratories, and those from centres with limited funding available.

journal_name

BMC Bioinformatics

journal_title

BMC bioinformatics

authors

Iacoangeli A,Al Khleifat A,Sproviero W,Shatunov A,Jones AR,Morgan SL,Pittman A,Dobson RJ,Newhouse SJ,Al-Chalabi A

doi

10.1186/s12859-019-2791-8

subject

Has Abstract

pub_date

2019-04-27 00:00:00

pages

213

issue

1

issn

1471-2105

pii

10.1186/s12859-019-2791-8

journal_volume

20

pub_type

杂志文章
  • Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.

    abstract:BACKGROUND:Over the course of the last few years there has been a significant amount of research performed on ontology-based formalization of phenotype descriptions. In order to fully capture the intrinsic value and knowledge expressed within them, we need to take advantage of their inner structure, which implicitly co...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-265

    authors: Groza T,Hunter J,Zankl A

    更新日期:2012-10-15 00:00:00

  • Multiple sequence alignment accuracy and evolutionary distance estimation.

    abstract:BACKGROUND:Sequence alignment is a common tool in bioinformatics and comparative genomics. It is generally assumed that multiple sequence alignment yields better results than pair wise sequence alignment, but this assumption has rarely been tested, and never with the control provided by simulation analysis. This study ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-278

    authors: Rosenberg MS

    更新日期:2005-11-23 00:00:00

  • Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data.

    abstract:BACKGROUND:Genome imputation, admixture resolution and genome-wide association analyses are timely and computationally intensive processes with many composite and requisite steps. Analysis time increases further when building and installing the run programs required for these analyses. For scientists that may not be as...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-019-2964-5

    authors: Eller RJ,Janga SC,Walsh S

    更新日期:2019-06-28 00:00:00

  • IDconverter and IDClight: conversion and annotation of gene and protein IDs.

    abstract:BACKGROUND:Researchers involved in the annotation of large numbers of gene, clone or protein identifiers are usually required to perform a one-by-one conversion for each identifier. When the field of research is one such as microarray experiments, this number may be around 30,000. RESULTS:To help researchers map acces...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-9

    authors: Alibés A,Yankilevich P,Cañada A,Díaz-Uriarte R

    更新日期:2007-01-10 00:00:00

  • A novel computational strategy for DNA methylation imputation using mixture regression model (MRM).

    abstract:BACKGROUND:DNA methylation is an important heritable epigenetic mark that plays a crucial role in transcriptional regulation and the pathogenesis of various human disorders. The commonly used DNA methylation measurement approaches, e.g., Illumina Infinium HumanMethylation-27 and -450 BeadChip arrays (27 K and 450 K arr...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-03865-z

    authors: Yu F,Xu C,Deng HW,Shen H

    更新日期:2020-12-01 00:00:00

  • eL-DASionator: an LDAS upload file generator.

    abstract:BACKGROUND:The Distributed Annotation System (DAS) allows merging of DNA sequence annotations from multiple sources and provides a single annotation view. A straightforward way to establish a DAS annotation server is to use the "Lightweight DAS" server (LDAS). Onto this type of server, annotations can be uploaded as fl...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-5-55

    authors: Negre V,Grunau C

    更新日期:2004-05-07 00:00:00

  • Components of the antigen processing and presentation pathway revealed by gene expression microarray analysis following B cell antigen receptor (BCR) stimulation.

    abstract:BACKGROUND:Activation of naïve B lymphocytes by extracellular ligands, e.g. antigen, lipopolysaccharide (LPS) and CD40 ligand, induces a combination of common and ligand-specific phenotypic changes through complex signal transduction pathways. For example, although all three of these ligands induce proliferation, only ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-237

    authors: Lee JA,Sinkovits RS,Mock D,Rab EL,Cai J,Yang P,Saunders B,Hsueh RC,Choi S,Subramaniam S,Scheuermann RH,Alliance for Cellular Signaling.

    更新日期:2006-05-02 00:00:00

  • SDAR: a practical tool for graphical analysis of two-dimensional data.

    abstract:BACKGROUND:Two-dimensional data needs to be processed and analysed in almost any experimental laboratory. Some tasks in this context may be performed with generic software such as spreadsheet programs which are available ubiquitously, others may require more specialised software that requires paid licences. Additionall...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-201

    authors: Weeratunga S,Hu NJ,Simon A,Hofmann A

    更新日期:2012-08-14 00:00:00

  • Maximum expected accuracy structural neighbors of an RNA secondary structure.

    abstract:BACKGROUND:Since RNA molecules regulate genes and control alternative splicing by allostery, it is important to develop algorithms to predict RNA conformational switches. Some tools, such as paRNAss, RNAshapes and RNAbor, can be used to predict potential conformational switches; nevertheless, no existent tool can detec...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-S5-S6

    authors: Clote P,Lou F,Lorenz WA

    更新日期:2012-04-12 00:00:00

  • How large B-factors can be in protein crystal structures.

    abstract:BACKGROUND:Protein crystal structures are potentially over-interpreted since they are routinely refined without any restraint on the upper limit of atomic B-factors. Consequently, some of their atoms, undetected in the electron density maps, are allowed to reach extremely large B-factors, even above 100 square Angstrom...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2083-8

    authors: Carugo O

    更新日期:2018-02-23 00:00:00

  • Software for selecting the most informative sets of genomic loci for multi-target microbial typing.

    abstract:BACKGROUND:High-throughput sequencing can identify numerous potential genomic targets for microbial strain typing, but identification of the most informative combinations requires the use of computational screening tools. This paper describes novel software-- Automated Selection of Typing Target Subsets (AuSeTTS)--that...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-14-148

    authors: O'Sullivan MV,Sintchenko V,Gilbert GL

    更新日期:2013-05-01 00:00:00

  • Alternative mapping of probes to genes for Affymetrix chips.

    abstract:BACKGROUND:Short oligonucleotide arrays have several probes measuring the expression level of each target transcript. Therefore the selection of probes is a key component for the quality of measurements. However, once probes have been selected and synthesized on an array, it is still possible to re-evaluate the results...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-5-111

    authors: Gautier L,Møller M,Friis-Hansen L,Knudsen S

    更新日期:2004-08-14 00:00:00

  • FITBAR: a web tool for the robust prediction of prokaryotic regulons.

    abstract:BACKGROUND:The binding of regulatory proteins to their specific DNA targets determines the accurate expression of the neighboring genes. The in silico prediction of new binding sites in completely sequenced genomes is a key aspect in the deeper understanding of gene regulatory networks. Several algorithms have been des...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-554

    authors: Oberto J

    更新日期:2010-11-11 00:00:00

  • A Web-based and Grid-enabled dChip version for the analysis of large sets of gene expression data.

    abstract:BACKGROUND:Microarray techniques are one of the main methods used to investigate thousands of gene expression profiles for enlightening complex biological processes responsible for serious diseases, with a great scientific impact and a wide application area. Several standalone applications had been developed in order t...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-9-480

    authors: Corradi L,Fato M,Porro I,Scaglione S,Torterolo L

    更新日期:2008-11-13 00:00:00

  • Predicting domain-domain interaction based on domain profiles with feature selection and support vector machines.

    abstract:BACKGROUND:Protein-protein interaction (PPI) plays essential roles in cellular functions. The cost, time and other limitations associated with the current experimental methods have motivated the development of computational methods for predicting PPIs. As protein interactions generally occur via domains instead of the ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-537

    authors: González AJ,Liao L

    更新日期:2010-10-29 00:00:00

  • MQAPRank: improved global protein model quality assessment by learning-to-rank.

    abstract:BACKGROUND:Protein structure prediction has achieved a lot of progress during the last few decades and a greater number of models for a certain sequence can be predicted. Consequently, assessing the qualities of predicted protein models in perspective is one of the key components of successful protein structure predict...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1691-z

    authors: Jing X,Dong Q

    更新日期:2017-05-25 00:00:00

  • A novel method to identify high order gene-gene interactions in genome-wide association studies: gene-based MDR.

    abstract:BACKGROUND:Because common complex diseases are affected by multiple genes and environmental factors, it is essential to investigate gene-gene and/or gene-environment interactions to understand genetic architecture of complex diseases. After the great success of large scale genome-wide association (GWA) studies using th...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-S9-S5

    authors: Oh S,Lee J,Kwon MS,Weir B,Ha K,Park T

    更新日期:2012-06-11 00:00:00

  • Virtual Grid Engine: a simulated grid engine environment for large-scale supercomputers.

    abstract:BACKGROUND:Supercomputers have become indispensable infrastructures in science and industries. In particular, most state-of-the-art scientific results utilize massively parallel supercomputers ranked in TOP500. However, their use is still limited in the bioinformatics field due to the fundamental fact that the asynchro...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-019-3085-x

    authors: Ito S,Yadome M,Nishiki T,Ishiduki S,Inoue H,Yamaguchi R,Miyano S

    更新日期:2019-12-02 00:00:00

  • OMeta: an ontology-based, data-driven metadata tracking system.

    abstract:BACKGROUND:The development of high-throughput sequencing and analysis has accelerated multi-omics studies of thousands of microbial species, metagenomes, and infectious disease pathogens. Omics studies are enabling genotype-phenotype association studies which identify genetic determinants of pathogen virulence and drug...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2580-9

    authors: Singh I,Kuscuoglu M,Harkins DM,Sutton G,Fouts DE,Nelson KE

    更新日期:2019-01-07 00:00:00

  • Sequence-based identification of recombination spots using pseudo nucleic acid representation and recursive feature extraction by linear kernel SVM.

    abstract:BACKGROUND:Identification of the recombination hot/cold spots is critical for understanding the mechanism of recombination as well as the genome evolution process. However, experimental identification of recombination spots is both time-consuming and costly. Developing an accurate and automated method for reliably and ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-340

    authors: Li L,Yu S,Xiao W,Li Y,Huang L,Zheng X,Zhou S,Yang H

    更新日期:2014-11-20 00:00:00

  • Inferring the role of transcription factors in regulatory networks.

    abstract:BACKGROUND:Expression profiles obtained from multiple perturbation experiments are increasingly used to reconstruct transcriptional regulatory networks, from well studied, simple organisms up to higher eukaryotes. Admittedly, a key ingredient in developing a reconstruction method is its ability to integrate heterogeneo...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-9-228

    authors: Veber P,Guziolowski C,Le Borgne M,Radulescu O,Siegel A

    更新日期:2008-05-06 00:00:00

  • Discovering motifs that induce sequencing errors.

    abstract:BACKGROUND:Elevated sequencing error rates are the most predominant obstacle in single-nucleotide polymorphism (SNP) detection, which is a major goal in the bulk of current studies using next-generation sequencing (NGS). Beyond routinely handled generic sources of errors, certain base calling errors relate to specific ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-14-S5-S1

    authors: Allhoff M,Schönhuth A,Martin M,Costa IG,Rahmann S,Marschall T

    更新日期:2013-01-01 00:00:00

  • SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.

    abstract:BACKGROUND:There are many fewer genes in the human genome than there are expressed transcripts. Alternative splicing is the reason. Alternatively spliced transcripts are often specific to tissue type, developmental stage, environmental condition, or disease state. Accurate analysis of microarray expression data and des...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-75

    authors: Kahn AB,Ryan MC,Liu H,Zeeberg BR,Jamison DC,Weinstein JN

    更新日期:2007-03-05 00:00:00

  • A randomized approach to speed up the analysis of large-scale read-count data in the application of CNV detection.

    abstract:BACKGROUND:The application of high-throughput sequencing in a broad range of quantitative genomic assays (e.g., DNA-seq, ChIP-seq) has created a high demand for the analysis of large-scale read-count data. Typically, the genome is divided into tiling windows and windowed read-count data is generated for the entire geno...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2077-6

    authors: Wang W,Sun W,Wang W,Szatkiewicz J

    更新日期:2018-03-01 00:00:00

  • A molecular model of the full-length human NOD-like receptor family CARD domain containing 5 (NLRC5) protein.

    abstract:BACKGROUND:Pattern recognition receptors of the immune system have key roles in the regulation of pathways after the recognition of microbial- and danger-associated molecular patterns in vertebrates. Members of NOD-like receptor (NLR) family typically function intracellularly. The NOD-like receptor family CARD domain c...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-14-275

    authors: Mótyán JA,Bagossi P,Benkő S,Tőzsér J

    更新日期:2013-09-17 00:00:00

  • Scuba: scalable kernel-based gene prioritization.

    abstract:BACKGROUND:The uncovering of genes linked to human diseases is a pressing challenge in molecular biology and precision medicine. This task is often hindered by the large number of candidate genes and by the heterogeneity of the available information. Computational methods for the prioritization of candidate genes can h...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2025-5

    authors: Zampieri G,Tran DV,Donini M,Navarin N,Aiolli F,Sperduti A,Valle G

    更新日期:2018-01-25 00:00:00

  • GenNon-h: generating multiple sequence alignments on nonhomogeneous phylogenetic trees.

    abstract:BACKGROUND:A number of software packages are available to generate DNA multiple sequence alignments (MSAs) evolved under continuous-time Markov processes on phylogenetic trees. On the other hand, methods of simulating the DNA MSA directly from the transition matrices do not exist. Moreover, existing software restricts ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-216

    authors: Kedzierska AM,Casanellas M

    更新日期:2012-08-28 00:00:00

  • Projections for fast protein structure retrieval.

    abstract:BACKGROUND:In recent times, there has been an exponential rise in the number of protein structures in databases e.g. PDB. So, design of fast algorithms capable of querying such databases is becoming an increasingly important research issue. This paper reports an algorithm, motivated from spectral graph matching techniq...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-S5-S5

    authors: Bhattacharya S,Bhattacharyya C,Chandra NR

    更新日期:2006-12-18 00:00:00

  • OmniMapFree: a unified tool to visualise and explore sequenced genomes.

    abstract:UNLABELLED: BACKGROUND:Acquiring and exploring whole genome sequence information for a species under investigation is now a routine experimental approach. On most genome browsers, typically, only the DNA sequence, EST support, motif search results, and GO annotations are displayed. However, for many species, a growing...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-447

    authors: Antoniw J,Beacham AM,Baldwin TK,Urban M,Rudd JJ,Hammond-Kosack KE

    更新日期:2011-11-15 00:00:00

  • Identification of conserved gene clusters in multiple genomes based on synteny and homology.

    abstract:BACKGROUND:Uncovering the relationship between the conserved chromosomal segments and the functional relatedness of elements within these segments is an important question in computational genomics. We build upon the series of works on gene teams and homology teams. RESULTS:Our primary contribution is a local sliding-...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-S9-S18

    authors: Sarkar A,Soueidan H,Nikolski M

    更新日期:2011-10-05 00:00:00