scholarly journals COVID-Align: Accurate online alignment of hCoV-19 genomes using a profile HMM

2020 ◽  
Author(s):  
Frédéric Lemoine ◽  
Luc Blassel ◽  
Jakub Voznica ◽  
Olivier Gascuel
Keyword(s):  
Daily Basis ◽  
Multiple Alignment ◽  
Supplementary Information ◽  
Summary Statistics ◽  
Evolutionary Novelty ◽  
Bioinformatics Analyses ◽  
Sequencing Quality ◽  
User Friendly ◽  
Profile Hmm ◽  
New Mutations

Abstract Motivation The first cases of the COVID-19 pandemic emerged in December 2019. Until the end of February 2020, the number of available genomes was below 1,000, and their multiple alignment was easily achieved using standard approaches. Subsequently, the availability of genomes has grown dramatically. Moreover, some genomes are of low quality with sequencing/assembly errors, making accurate re-alignment of all genomes nearly impossible on a daily basis. A more efficient, yet accurate approach was clearly required to pursue all subsequent bioinformatics analyses of this crucial data. Results hCoV-19 genomes are highly conserved, with very few indels and no recombination. This makes the profile HMM approach particularly well suited to align new genomes, add them to an existing alignment and filter problematic ones. Using a core of ∼2,500 high quality genomes, we estimated a profile using HMMER, and implemented this profile in COVID-Align, a user-friendly interface to be used online or as standalone via Docker. The alignment of 1,000 genomes requires ∼50mn on our cluster. Moreover, COVID-Align provides summary statistics, which can be used to determine the sequencing quality and evolutionary novelty of input genomes (e.g. number of new mutations and indels). Availability https://covalign.pasteur.cloud, hub.docker.com/r/evolbioinfo/covid-align Supplementary information Supplementary information is available at Bioinformatics online.

scholarly journals COVID-Align: Accurate online alignment of hCoV-19 genomes using a profile HMM

2020 ◽  
Author(s):  
Frédéric Lemoine ◽  
Luc Blassel ◽  
Jakub Voznica ◽  
Olivier Gascuel
Keyword(s):  
Daily Basis ◽  
Supplementary Information ◽  
Summary Statistics ◽  
Evolutionary Novelty ◽  
Bioinformatics Analyses ◽  
Link Type ◽  
Sequencing Quality ◽  
User Friendly ◽  
Profile Hmm ◽  
New Mutations

AbstractMotivationThe first cases of the COVID-19 pandemic emerged in December 2019. Until the end of February 2020, the number of available genomes was below 1,000, and their multiple alignment was easily achieved using standard approaches. Subsequently, the availability of genomes has grown dramatically. Moreover, some genomes are of low quality with sequencing/assembly errors, making accurate re-alignment of all genomes nearly impossible on a daily basis. A more efficient, yet accurate approach was clearly required to pursue all subsequent bioinformatics analyses of this crucial data.ResultshCoV-19 genomes are highly conserved, with very few indels and no recombination. This makes the profile HMM approach particularly well suited to align new genomes, add them to an existing alignment and filter problematic ones. Using a core of ∼2,500 high quality genomes, we estimated a profile using HMMER, and implemented this profile in COVID-Align, a user-friendly interface to be used online or as standalone via Docker. The alignment of 1,000 genomes requires less than 20mn on our cluster. Moreover, COVID-Align provides summary statistics, which can be used to determine the sequencing quality and evolutionary novelty of input genomes (e.g. number of new mutations and indels).Availabilityhttps://covalign.pasteur.cloud, hub.docker.com/r/evolbioinfo/[email protected], [email protected] informationSupplementary information is available at Bioinformatics online.

deMeta: Removing sub-studies from meta-analysis of genome wide association studies (GWAS)

2020 ◽  
Author(s):  
Jiangming Sun ◽  
Yunpeng Wang
Keyword(s):  
Association Studies ◽  
Meta Analysis ◽  
Supplementary Information ◽  
Genome Wide Association Studies ◽  
Summary Statistics ◽  
Computationally Efficient ◽  
Genome Wide ◽  
Quantile Plots ◽  
User Friendly ◽  
The Impact

ABSTRACTSummaryPost-GWAS studies using the results from large consortium meta-analysis often need to correctly take care of the overlapping sample issue. The gold standard approach for resolving this issue is to reperform the GWAS or meta-analysis excluding the overlapped participants. However, such approach is time-consuming and, sometimes, restricted by the available data. deMeta provides a user friendly and computationally efficient command-line implementation for removing the effect of a contributing sub-study to a consortium from the meta-analysis results. Only the summary statistics of the meta-analysis the sub-study to be removed are required. In addition, deMeta can generate contrasting Manhattan and quantile-quantile plots for users to visualize the impact of the sub-study on the meta-analysis results.Availability and ImplementationThe python source code, examples and documentations of deMeta are publicly available at https://github.com/Computational-NeuroGenetics/[email protected] (J. Sun); [email protected] (Y. Wang)Supplementary informationNone.

scholarly journals GDASC: a GPU parallel-based web server for detecting hidden batch factors

2020 ◽  
Vol 36 (14) ◽  
pp. 4211-4213
Author(s):  
Xiao Wang ◽  
Haidong Yi ◽  
Jia Wang ◽  
Zhandong Liu ◽  
Yanbin Yin ◽  
...  
Keyword(s):  
High Speed ◽  
Supplementary Information ◽  
Batch Effects ◽  
Web Interface ◽  
Control Dataset ◽  
Sequencing Quality ◽  
Data Adaptive ◽  
User Friendly ◽  
Convex Clustering ◽  
Non Negative Matrix Factorization

Abstract Summary We developed GDASC, a web version of our former DASC algorithm implemented with GPU. It provides a user-friendly web interface for detecting batch factors. Based on the good performance of DASC algorithm, it is able to give the most accurate results. For two steps of DASC, data-adaptive shrinkage and semi-non-negative matrix factorization, we designed parallelization strategies facing convex clustering solution and decomposition process. It runs more than 50 times faster than the original version on the representative RNA sequencing quality control dataset. With its accuracy and high speed, this server will be a useful tool for batch effects analysis. Availability and implementation http://bioinfo.nankai.edu.cn/gdasc.php. Contact [email protected] Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals E-MAGMA: an eQTL-informed method to identify risk genes using genome-wide association study summary statistics

2021 ◽  
Author(s):  
Zachary F Gerring ◽  
Angela Mina-Vargas ◽  
Eric R Gamazon ◽  
Eske M Derks
Keyword(s):  
Genome Wide Association ◽  
Chromosome 1 ◽  
Supplementary Information ◽  
Genome Wide Association Studies ◽  
Summary Statistics ◽  
Tissue Specific ◽  
Complex Disorders ◽  
Risk Variants ◽  
Genome Wide ◽  
Causal Genes

Abstract Motivation Genome-wide association studies have successfully identified multiple independent genetic loci that harbour variants associated with human traits and diseases, but the exact causal genes are largely unknown. Common genetic risk variants are enriched in non-protein-coding regions of the genome and often affect gene expression (expression quantitative trait loci, eQTL) in a tissue-specific manner. To address this challenge, we developed a methodological framework, E-MAGMA, which converts genome-wide association summary statistics into gene-level statistics by assigning risk variants to their putative genes based on tissue-specific eQTL information. Results We compared E-MAGMA to three eQTL informed gene-based approaches using simulated phenotype data. Phenotypes were simulated based on eQTL reference data using GCTA for all genes with at least one eQTL at chromosome 1. We performed 10 simulations per gene. The eQTL-h2 (i.e., the proportion of variation explained by the eQTLs) was set at 1%, 2%, and 5%. We found E-MAGMA outperforms other gene-based approaches across a range of simulated parameters (e.g. the number of identified causal genes). When applied to genome-wide association summary statistics for five neuropsychiatric disorders, E-MAGMA identified more putative candidate causal genes compared to other eQTL-based approaches. By integrating tissue-specific eQTL information, these results show E-MAGMA will help to identify novel candidate causal genes from genome-wide association summary statistics and thereby improve the understanding of the biological basis of complex disorders. Availability A tutorial and input files are made available in a github repository: https://github.com/eskederks/eMAGMA-tutorial. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals Ribo-ODDR: Oligo design pipeline for experiment-specific rRNA depletion in ribo-seq

2021 ◽  
Author(s):  
Ferhat Alkan ◽  
Joana Silva ◽  
Eric Pintó Barberà ◽  
William J Faller
Keyword(s):  
Ribosome Profiling ◽  
Supplementary Information ◽  
Experimental Conditions ◽  
Computational Framework ◽  
Rna Translation ◽  
Rrna Depletion ◽  
Selection For ◽  
Nucleotide Resolution ◽  
User Friendly ◽  
Oligo Design

Abstract Motivation Ribosome Profiling (Ribo-seq) has revolutionized the study of RNA translation by providing information on ribosome positions across all translated RNAs with nucleotide-resolution. Yet several technical limitations restrict the sequencing depth of such experiments, the most common of which is the overabundance of rRNA fragments. Various strategies can be employed to tackle this issue, including the use of commercial rRNA depletion kits. However, as they are designed for more standardized RNAseq experiments, they may perform suboptimally in Ribo-seq. In order to overcome this, it is possible to use custom biotinylated oligos complementary to the most abundant rRNA fragments, however currently no computational framework exists to aid the design of optimal oligos. Results Here, we first show that a major confounding issue is that the rRNA fragments generated via Ribo-seq vary significantly with differing experimental conditions, suggesting that a “one-size-fits-all” approach may be inefficient. Therefore we developed Ribo-ODDR, an oligo design pipeline integrated with a user-friendly interface that assists in oligo selection for efficient experiment-specific rRNA depletion. Ribo-ODDR uses preliminary data to identify the most abundant rRNA fragments, and calculates the rRNA depletion efficiency of potential oligos. We experimentally show that Ribo-ODDR designed oligos outperform commercially available kits and lead to a significant increase in rRNA depletion in Ribo-seq. Availability Ribo-ODDR is freely accessible at https://github.com/fallerlab/Ribo-ODDR Supplementary information Supplementary data are available at Bioinformatics online.

CPVA: a web-based metabolomic tool for chromatographic peak visualization and annotation

2020 ◽  
Vol 36 (12) ◽  
pp. 3913-3915
Author(s):  
Hemi Luan ◽  
Xingen Jiang ◽  
Fenfen Ji ◽  
Zhangzhang Lan ◽  
Zongwei Cai ◽  
...  
Keyword(s):  
False Positive ◽  
Supplementary Information ◽  
Liquid Chromatography Mass Spectrometry ◽  
Targeted Metabolomics ◽  
Metabolomics Data ◽  
Web Based ◽  
Tremendous Amount ◽  
Chromatographic Peaks ◽  
User Friendly

Abstract Motivation Liquid chromatography–mass spectrometry-based non-targeted metabolomics is routinely performed to qualitatively and quantitatively analyze a tremendous amount of metabolite signals in complex biological samples. However, false-positive peaks in the datasets are commonly detected as metabolite signals by using many popular software, resulting in non-reliable measurement. Results To reduce false-positive calling, we developed an interactive web tool, termed CPVA, for visualization and accurate annotation of the detected peaks in non-targeted metabolomics data. We used a chromatogram-centric strategy to unfold the characteristics of chromatographic peaks through visualization of peak morphology metrics, with additional functions to annotate adducts, isotopes and contaminants. CPVA is a free, user-friendly tool to help users to identify peak background noises and contaminants, resulting in decrease of false-positive or redundant peak calling, thereby improving the data quality of non-targeted metabolomics studies. Availability and implementation The CPVA is freely available at http://cpva.eastus.cloudapp.azure.com. Source code and installation instructions are available on GitHub: https://github.com/13479776/cpva. Supplementary information Supplementary data are available at Bioinformatics online.

MetaADEDB 2.0: a comprehensive database on adverse drug events

2020 ◽  
Author(s):  
Zhuohang Yu ◽  
Zengrui Wu ◽  
Weihua Li ◽  
Guixia Liu ◽  
Yun Tang
Keyword(s):  
Safety Assessment ◽  
Adverse Drug Events ◽  
Adverse Event Reporting System ◽  
Adverse Event Reporting ◽  
Supplementary Information ◽  
Online Database ◽  
Web Interface ◽  
Drug Discovery And Development ◽  
Comprehensive Information ◽  
User Friendly

Abstract Summary MetaADEDB is an online database we developed to integrate comprehensive information on adverse drug events (ADEs). The first version of MetaADEDB was released in 2013 and has been widely used by researchers. However, it has not been updated for more than seven years. Here, we reported its second version by collecting more and newer data from the U.S. FDA Adverse Event Reporting System (FAERS) and Canada Vigilance Adverse Reaction Online Database, in addition to the original three sources. The new version consists of 744 709 drug–ADE associations between 8498 drugs and 13 193 ADEs, which has an over 40% increase in drug–ADE associations compared to the previous version. Meanwhile, we developed a new and user-friendly web interface for data search and analysis. We hope that MetaADEDB 2.0 could provide a useful tool for drug safety assessment and related studies in drug discovery and development. Availability and implementation The database is freely available at: http://lmmd.ecust.edu.cn/metaadedb/. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals PathScore: a web tool for identifying altered pathways in cancer data

2016 ◽  
Author(s):  
Stephen G. Gaffney ◽  
Jeffrey P. Townsend
Keyword(s):  
Web Application ◽  
Somatic Mutations ◽  
Supplementary Information ◽  
Web Tool ◽  
Cancer Data ◽  
Link Type ◽  
Novel Approach ◽  
Supplementary Material ◽  
User Friendly ◽  
Pathway Effect

ABSTRACTSummaryPathScore quantifies the level of enrichment of somatic mutations within curated pathways, applying a novel approach that identifies pathways enriched across patients. The application provides several user-friendly, interactive graphic interfaces for data exploration, including tools for comparing pathway effect sizes, significance, gene-set overlap and enrichment differences between projects.Availability and ImplementationWeb application available at pathscore.publichealth.yale.edu. Site implemented in Python and MySQL, with all major browsers supported. Source code available at github.com/sggaffney/pathscore with a GPLv3 [email protected] InformationAdditional documentation can be found at http://pathscore.publichealth.yale.edu/faq.

Augmented Reality as a New Media for Supporting Mobile-Learning

2016 ◽  
pp. 655-672
Author(s):  
Mauro Figueiredo ◽  
José Gomes ◽  
Cristina Maria Cardoso Gomes ◽  
Rui Gaspar ◽  
João Madeira Lopes
Keyword(s):  
Augmented Reality ◽  
New Media ◽  
Mobile Device ◽  
Mobile Technologies ◽  
Supplementary Information ◽  
Educational Activities ◽  
Teaching Activities ◽  
Teachers And Students ◽  
Programming Skills ◽  
User Friendly

Combining mobile technologies with Augmented Reality (AR) has recently enabled the ubiquity of AR technologies in our everyday life. We believe that the use of augmented reality will change significantly the teaching activities by enabling the addition of supplementary information that is seen on a mobile device. This chapter presents the most popular augmented reality applications and we select AR eco-systems to be used in daily teaching activities which are user friendly, do not require programming skills and are free. Different augmented reality technologies are explored in this chapter. It is presented the creation of two novel augmented reality books. One developed with teachers and students. Another book that was developed for increasing the interest of reading for children that is being used by storytellers. Several examples are also presented that are used in educational activities, from kindergarten, elementary, secondary schools and university, to improve reading, comprehension, learning of music and better understand the drawing of orthographic views.

scholarly journals Predicting runtimes of bioinformatics tools based on historical data: five years of Galaxy usage

2019 ◽  
Vol 35 (18) ◽  
pp. 3453-3460 ◽  
Author(s):  
Anastasia Tyryshkina ◽  
Nate Coraor ◽  
Anton Nekrutenko
Keyword(s):  
Random Forest ◽  
Supplementary Information ◽  
Gradient Boosting ◽  
Resource Requirement ◽  
Bioinformatics Analyses ◽  
Runtime Prediction ◽  
The Galaxy ◽  
Processing Resources ◽  
Resource Usage Prediction ◽  
The Many

Abstract Motivation One of the many technical challenges that arises when scheduling bioinformatics analyses at scale is determining the appropriate amount of memory and processing resources. Both over- and under-allocation leads to an inefficient use of computational infrastructure. Over allocation locks resources that could otherwise be used for other analyses. Under-allocation causes job failure and requires analyses to be repeated with a larger memory or runtime allowance. We address this challenge by using a historical dataset of bioinformatics analyses run on the Galaxy platform to demonstrate the feasibility of an online service for resource requirement estimation. Results Here we introduced the Galaxy job run dataset and tested popular machine learning models on the task of resource usage prediction. We include three popular forest models: the extra trees regressor, the gradient boosting regressor and the random forest regressor, and find that random forests perform best in the runtime prediction task. We also present two methods of choosing walltimes for previously unseen jobs. Quantile regression forests are more accurate in their predictions, and grant the ability to improve performance by changing the confidence of the estimates. However, the sizes of the confidence intervals are variable and cannot be absolutely constrained. Random forest classifiers address this problem by providing control over the size of the prediction intervals with an accuracy that is comparable to that of the regressor. We show that estimating the memory requirements of a job is possible using the same methods, which as far as we know, has not been done before. Such estimation can be highly beneficial for accurate resource allocation. Availability and implementation Source code available at https://github.com/atyryshkina/algorithm-performance-analysis, implemented in Python. Supplementary information Supplementary data are available at Bioinformatics online.

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