scholarly journals OLOGRAM: determining significance of total overlap length between genomic regions sets

2019 ◽  
Author(s):  
Q Ferré ◽  
G Charbonnier ◽  
N Sadouni ◽  
F Lopez ◽  
Y Kermezli ◽  
...  
Keyword(s):  
Negative Binomial ◽  
Statistical Significance ◽  
Functional Relation ◽  
Supplementary Information ◽  
P Value ◽  
Binomial Model ◽  
Command Line ◽  
Command Line Interface ◽  
Bioinformatics Analyses ◽  
Genomic Regions

Abstract Motivation Various bioinformatics analyses provide sets of genomic coordinates of interest. Whether two such sets possess a functional relation is a frequent question. This is often determined by interpreting the statistical significance of their overlaps. However, only few existing methods consider the lengths of the overlap, and they do not provide a resolutive P-value. Results Here, we introduce OLOGRAM, which performs overlap statistics between sets of genomic regions described in BEDs or GTF. It uses Monte Carlo simulation, taking into account both the distributions of region and inter-region lengths, to fit a negative binomial model of the total overlap length. Exclusion of user-defined genomic areas during the shuffling is supported. Availability and implementation This tool is available through the command line interface of the pygtftk toolkit. It has been tested on Linux and OSX and is available on Bioconda and from https://github.com/dputhier/pygtftk under the GNU GPL license. Contact [email protected] Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals OLOGRAM-MODL: mining enriched n-wise combinations of genomic features with Monte Carlo and dictionary learning

2021 ◽  
Vol 3 (4) ◽  
Author(s):  
Quentin Ferré ◽  
Cécile Capponi ◽  
Denis Puthier
Keyword(s):  
Monte Carlo ◽  
Dictionary Learning ◽  
Negative Binomial ◽  
Statistical Significance ◽  
Biological Data ◽  
Command Line Interface ◽  
Genomic Features ◽  
Biological Assays ◽  
Workflow Integration ◽  
Genomic Regions

Abstract Most epigenetic marks, such as Transcriptional Regulators or histone marks, are biological objects known to work together in n-wise complexes. A suitable way to infer such functional associations between them is to study the overlaps of the corresponding genomic regions. However, the problem of the statistical significance of n-wise overlaps of genomic features is seldom tackled, which prevent rigorous studies of n-wise interactions. We introduce OLOGRAM-MODL, which considers overlaps between n ≥ 2 sets of genomic regions, and computes their statistical mutual enrichment by Monte Carlo fitting of a Negative Binomial distribution, resulting in more resolutive P-values. An optional machine learning method is proposed to find complexes of interest, using a new itemset mining algorithm based on dictionary learning which is resistant to noise inherent to biological assays. The overall approach is implemented through an easy-to-use CLI interface for workflow integration, and a visual tree-based representation of the results suited for explicability. The viability of the method is experimentally studied using both artificial and biological data. This approach is accessible through the command line interface of the pygtftk toolkit, available on Bioconda and from https://github.com/dputhier/pygtftk

scholarly journals DEsingle for detecting three types of differential expression in single-cell RNA-seq data

2017 ◽  
Author(s):  
Zhun Miao ◽  
Ke Deng ◽  
Xiaowo Wang ◽  
Xuegong Zhang
Keyword(s):  
Single Cell ◽  
Differential Expression ◽  
Negative Binomial ◽  
Single Cells ◽  
R Package ◽  
Supplementary Information ◽  
Binomial Model ◽  
Supplementary Data ◽  
Rna Seq ◽  
Real Zeros

AbstractSummaryThe excessive amount of zeros in single-cell RNA-seq data include “real” zeros due to the on-off nature of gene transcription in single cells and “dropout” zeros due to technical reasons. Existing differential expression (DE) analysis methods cannot distinguish these two types of zeros. We developed an R package DEsingle which employed Zero-Inflated Negative Binomial model to estimate the proportion of real and dropout zeros and to define and detect 3 types of DE genes in single-cell RNA-seq data with higher accuracy.Availability and ImplementationThe R package DEsingle is freely available at https://github.com/miaozhun/DEsingle and is under Bioconductor’s consideration [email protected] informationSupplementary data are available at bioRxiv online.

scholarly journals BioKEEN: a library for learning and evaluating biological knowledge graph embeddings

2019 ◽  
Vol 35 (18) ◽  
pp. 3538-3540 ◽  
Author(s):  
Mehdi Ali ◽  
Charles Tapley Hoyt ◽  
Daniel Domingo-Fernández ◽  
Jens Lehmann ◽  
Hajira Jabeen
Keyword(s):  
Supplementary Information ◽  
Knowledge Graph ◽  
Biological Knowledge ◽  
Command Line ◽  
Graph Embeddings ◽  
Command Line Interface ◽  
Software Ecosystem ◽  
Mapping Resource ◽  
Significant Attention

Abstract Summary Knowledge graph embeddings (KGEs) have received significant attention in other domains due to their ability to predict links and create dense representations for graphs’ nodes and edges. However, the software ecosystem for their application to bioinformatics remains limited and inaccessible for users without expertise in programing and machine learning. Therefore, we developed BioKEEN (Biological KnowlEdge EmbeddiNgs) and PyKEEN (Python KnowlEdge EmbeddiNgs) to facilitate their easy use through an interactive command line interface. Finally, we present a case study in which we used a novel biological pathway mapping resource to predict links that represent pathway crosstalks and hierarchies. Availability and implementation BioKEEN and PyKEEN are open source Python packages publicly available under the MIT License at https://github.com/SmartDataAnalytics/BioKEEN and https://github.com/SmartDataAnalytics/PyKEEN Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals DamageProfiler: Fast damage pattern calculation for ancient DNA

2021 ◽  
Author(s):  
Judith Neukamm ◽  
Alexander Peltzer ◽  
Kay Nieselt
Keyword(s):  
Ancient Dna ◽  
Source Code ◽  
Supplementary Information ◽  
Command Line ◽  
Central Importance ◽  
Command Line Interface ◽  
Analysis Pipeline ◽  
File Formats ◽  
Programming Knowledge ◽  
User Friendly

Abstract Motivation In ancient DNA research, the authentication of ancient samples based on specific features remains a crucial step in data analysis. Because of this central importance, researchers lacking deeper programming knowledge should be able to run a basic damage authentication analysis. Such software should be user-friendly and easy to integrate into an analysis pipeline. Results DamageProfiler is a Java based, stand-alone software to determine damage patterns in ancient DNA. The results are provided in various file formats and plots for further processing. DamageProfiler has an intuitive graphical as well as command line interface that allows the tool to be easily embedded into an analysis pipeline. Availability All of the source code is freely available on GitHub (https://github.com/Integrative-Transcriptomics/DamageProfiler). Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals RECAP reveals the true statistical significance of ChIP-seq peak calls

2019 ◽  
Vol 35 (19) ◽  
pp. 3592-3598 ◽  
Author(s):  
Justin G Chitpin ◽  
Aseel Awdeh ◽  
Theodore J Perkins
Keyword(s):  
False Discovery Rate ◽  
Statistical Significance ◽  
Statistical Hypothesis ◽  
Supplementary Information ◽  
Peak Calling ◽  
Statistical Hypothesis Testing ◽  
P Values ◽  
False Discovery ◽  
Genomic Regions ◽  
And Control

Abstract Motivation Chromatin Immunopreciptation (ChIP)-seq is used extensively to identify sites of transcription factor binding or regions of epigenetic modifications to the genome. A key step in ChIP-seq analysis is peak calling, where genomic regions enriched for ChIP versus control reads are identified. Many programs have been designed to solve this task, but nearly all fall into the statistical trap of using the data twice—once to determine candidate enriched regions, and again to assess enrichment by classical statistical hypothesis testing. This double use of the data invalidates the statistical significance assigned to enriched regions, thus the true significance or reliability of peak calls remains unknown. Results Using simulated and real ChIP-seq data, we show that three well-known peak callers, MACS, SICER and diffReps, output biased P-values and false discovery rate estimates that can be many orders of magnitude too optimistic. We propose a wrapper algorithm, RECAP, that uses resampling of ChIP-seq and control data to estimate a monotone transform correcting for biases built into peak calling algorithms. When applied to null hypothesis data, where there is no enrichment between ChIP-seq and control, P-values recalibrated by RECAP are approximately uniformly distributed. On data where there is genuine enrichment, RECAP P-values give a better estimate of the true statistical significance of candidate peaks and better false discovery rate estimates, which correlate better with empirical reproducibility. RECAP is a powerful new tool for assessing the true statistical significance of ChIP-seq peak calls. Availability and implementation The RECAP software is available through www.perkinslab.ca or on github at https://github.com/theodorejperkins/RECAP. Supplementary information Supplementary data are available at Bioinformatics online.

scholarly journals OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data

2018 ◽  
Author(s):  
Felix Brechtmann ◽  
Agnė Matusevičiūtė ◽  
Christian Mertes ◽  
Vicente A Yépez ◽  
Žiga Avsec ◽  
...  
Keyword(s):  
Gene Expression ◽  
Rna Sequencing ◽  
Negative Binomial ◽  
Statistical Significance ◽  
P Value ◽  
Rna Seq ◽  
Sequencing Data ◽  
Data Set ◽  
Aberrant Gene Expression ◽  
Aberrant Gene

AbstractRNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome sequencing for precisely identifying the molecular causes of rare disorders. A powerful approach is to identify aberrant gene expression levels as potential pathogenic events. However, existing methods for detecting aberrant read counts in RNA-seq data either lack assessments of statistical significance, so that establishing cutoffs is arbitrary, or rely on subjective manual corrections for confounders. Here, we describe OUTRIDER (OUTlier in RNA-seq fInDER), an algorithm developed to address these issues. The algorithm uses an autoencoder to model read count expectations according to the co-variation among genes resulting from technical, environmental, or common genetic variations. Given these expectations, the RNA-seq read counts are assumed to follow a negative binomial distribution with a gene-specific dispersion. Outliers are then identified as read counts that significantly deviate from this distribution. The model is automatically fitted to achieve the best correction of artificially corrupted data. Precision–recall analyses using simulated outlier read counts demonstrated the importance of combining correction for co-variation and significance-based thresholds. OUTRIDER is open source and includes functions for filtering out genes not expressed in a data set, for identifying outlier samples with too many aberrantly expressed genes, and for the P-value-based detection of aberrant gene expression, with false discovery rate adjustment. Overall, OUTRIDER provides a computationally fast and scalable end-to-end solution for identifying aberrantly expressed genes, suitable for use by rare disease diagnostic platforms.

scholarly journals CoV-Seq: SARS-CoV-2 Genome Analysis and Visualization

2020 ◽  
Author(s):  
Boxiang Liu ◽  
Kaibo Liu ◽  
He Zhang ◽  
Liang Zhang ◽  
Yuchen Bian ◽  
...  
Keyword(s):  
Ad Hoc ◽  
Rapid Analysis ◽  
Supplementary Information ◽  
Command Line ◽  
Command Line Interface ◽  
Link Type ◽  
Global Pandemic ◽  
Fast Pace ◽  
Public Repositories ◽  
Programming Knowledge

AbstractSummaryCOVID-19 has become a global pandemic not long after its inception in late 2019. SARS-CoV-2 genomes are being sequenced and shared on public repositories at a fast pace. To keep up with these updates, scientists need to frequently refresh and reclean datasets, which is ad hoc and labor-intensive. Further, scientists with limited bioinformatics or programming knowledge may find it difficult to analyze SARS-CoV-2 genomes. In order to address these challenges, we developed CoV-Seq, a webserver to enable simple and rapid analysis of SARS-CoV-2 genomes. Given a new sequence, CoV-Seq automatically predicts gene boundaries and identifies genetic variants, which are presented in an interactive genome visualizer and are downloadable for further analysis. A command-line interface is also available for high-throughput processing.Availability and ImplementationCoV-Seq is implemented in Python and Javascript. The webserver is available at http://covseq.baidu.com/ and the source code is available from https://github.com/boxiangliu/[email protected] informationSupplementary information are available at bioRxiv online.

scholarly journals How significant is a protein structure similarity with TM-score = 0.5?

2010 ◽  
Vol 26 (7) ◽  
pp. 889-895 ◽  
Author(s):  
Jinrui Xu ◽  
Yang Zhang
Keyword(s):  
Protein Structure ◽  
Posterior Probability ◽  
Statistical Significance ◽  
Extreme Value Distribution ◽  
Structural Similarity ◽  
Supplementary Information ◽  
Quantitative Relation ◽  
P Value ◽  
Rapid Phase ◽  
Structure Similarity

Abstract Motivation: Protein structure similarity is often measured by root mean squared deviation, global distance test score and template modeling score (TM-score). However, the scores themselves cannot provide information on how significant the structural similarity is. Also, it lacks a quantitative relation between the scores and conventional fold classifications. This article aims to answer two questions: (i) what is the statistical significance of TM-score? (ii) What is the probability of two proteins having the same fold given a specific TM-score? Results: We first made an all-to-all gapless structural match on 6684 non-homologous single-domain proteins in the PDB and found that the TM-scores follow an extreme value distribution. The data allow us to assign each TM-score a P-value that measures the chance of two randomly selected proteins obtaining an equal or higher TM-score. With a TM-score at 0.5, for instance, its P-value is 5.5 × 10−7, which means we need to consider at least 1.8 million random protein pairs to acquire a TM-score of no less than 0.5. Second, we examine the posterior probability of the same fold proteins from three datasets SCOP, CATH and the consensus of SCOP and CATH. It is found that the posterior probability from different datasets has a similar rapid phase transition around TM-score=0.5. This finding indicates that TM-score can be used as an approximate but quantitative criterion for protein topology classification, i.e. protein pairs with a TM-score >0.5 are mostly in the same fold while those with a TM-score <0.5 are mainly not in the same fold. Contact: [email protected] Supplementary information: Supplementary data are available at Bioinformatics online.

GfaViz: flexible and interactive visualization of GFA sequence graphs

2018 ◽  
Vol 35 (16) ◽  
pp. 2853-2855 ◽  
Author(s):  
Giorgio Gonnella ◽  
Niklas Niehus ◽  
Stefan Kurtz
Keyword(s):  
Interactive Visualization ◽  
Supplementary Information ◽  
Command Line ◽  
Supplementary Data ◽  
Command Line Interface ◽  
Vector Graphics ◽  
Fragment Assembly ◽  
Or Groups ◽  
Graphical Tool ◽  
Standard Configuration

Abstract Summary The graphical fragment assembly (GFA) formats are emerging standard formats for the representation of sequence graphs. Although GFA 1 was primarily targeting assembly graphs, the newer GFA 2 format introduces several features, which makes it suitable for representing other kinds of information, such as scaffolding graphs, variation graphs, alignment graphs and colored metagenomic graphs. Here, we present GfaViz, an interactive graphical tool for the visualization of sequence graphs in GFA format. The software supports all new features of GFA 2 and introduces conventions for their visualization. The user can choose between two different layouts and multiple styles for representing single elements or groups. All customizations can be stored in custom tags of the GFA format itself, without requiring external configuration files. Stylesheets are supported for storing standard configuration options for groups of files. The visualizations can be exported to raster and vector graphics formats. A command line interface allows for batch generation of images. Availability and implementation GfaViz is available at https://github.com/ggonnella/gfaviz Supplementary information Supplementary data are available at Bioinformatics online.

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