Search Results for "genome"

123VCF has been developed to make the filtration step of VCF files efficient and more importantly easy to understand. It can be used in the most important step of whole exome/genome sequencing data analysis in the research and also clinical settings. User manual: https://dl.adbioinformatics.net/123VCF/123VCF_Manual.ver2.pdf If you use 123VCF, please cite its paper: Eidi, M., Abdolalizadeh, S., Moeini, S. et al. 123VCF: an intuitive and efficient tool for filtering VCF files. BMC Bioinformatics 25, 68 (2024). https://doi.org/10.1186/s12859-024-05661-5 _____________________________________ Authors: Milad Eidi, Samaneh Abdolalizadeh, Soheila Moeini Supervisors: Javad Zahiri, PhD - Masoud Garshasbi, PhD Department of Neuroscience, University of California San Diego, California, USA Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

genome de novo assembler for next generation sequencing data, tool to link contigs by long DNA reads

A pipeline to analyze the data obtained from targeted bisulfite sequencing through the ion-torrent platform. TaBSAP is a pipeline to map bisulfite treated sequencing reads to a genome of interest and perform methylation calls in a single step and enables a researcher to analyze the methylation levels of their samples straight away. It's main features are: -Bisulfite mapping and methylation calling in one single step -Supports single-end read alignments -Alignment seed length, number of mismatches etc. are adjustable -The output gives heatmap with categories.

miARma-Seq, which stands for miRNA-Seq And RNA-Seq Multiprocess Analysis, is a suite designed to study mRNAs, miRNAs and circRNAs. It is able to perform differential expression analysis, miRNA-mRNA target prediction and functional analysis among others. Most importantly, it can be applied to any sequenced organism, and it can be initiated at any step of the workflow. As a stand-alone tool, is both easy to install and extremely flexible in terms of its use. It brings together...

GAPE is a one-stop proteogenomic informatics software that provides a multifaceted and standard workflow against eukaryotes in proteogenomic data-analysis cycle for genome refinement and global identification of PTM events. This software allows concurrent querying of proteomic and genomic databases to refining the genome and proteome annotations comprehensively. This includes MS data and database construction, database searches, FDR calculations, statistical result integration, validation of annotated genes, identification of previously unidentified genes, protein level identification of alternative spliced variants and SAAV, biological interpretation, and global PTM discovery.

The emerging genome-wide hairpin bisulfite sequencing technique facilitates the determination of DNA methylation fidelity and accurate methylation calling. Here we present HBS analyzer, the first command line based open-source tool to process genome-wide hairpin bisulfite sequencing data. It accepts Illumina paired-end sequencing reads as input, performs alignment to recover the original (pre-bisulfite-converted) DNA sequences and calls methylation status for cytosines on both DNA strands.

jChIP is a GUI-based Java application for ChIP-Seq data analysis. It was created to build binding profiles between proteins and loci in the genome. In addition it computes statistics of the number of loci/positions containing specified amount of tags. jChIP is able to load data in several common formats (SAM, BAM, WIG, BED, Bowtie) and download loci definitions directly from the Ensembl database. http://www.biomedcentral.com/1756-0500/7/676

Software quality assurance is essential in genomic medicine. Nonetheless there is currently no systematic evaluation of existing computational tools used for whole genome or whole exome sequencing data analysis. We developed a Metamorphic Testing tool that tests three widely used short-read alignment programs (BWA, Bowtie and Bowtie2) in order to systematically evaluate their performance.

LocusVu is a novel Java based software tool that accepts a list of genomic loci (positions on the chromosome) as input and automates fetching of related information (cytogenetic band, gene name, OMIM data etc.) from public databases such as the UCSC genome browser database. It then enables multiple workflows on the retrieved results, like comparing multiple datasets (comparative genomics), viewing neighboring genes for a loci from within the tool itself, or graphically representing these results in bar / pie charts. LocusVu has a simple easy-to-use GUI on the frontend which enables intuitive user interaction with the underlying logic. ...

mendelFix is a Perl script for checking Mendelian errors in genome-wide SNP data of trio designs. The program takes 12-recoded PLINK PED and MAP files as input, and calculates a series of summary statistics for Mendelian errors, sets as missing offspring genotypes that present Mendelian inconsistencies, and implements a simplistic procedure to infer missing genotypes using parent information. The program can be easily incorporated in any pipeline for family-based SNP data analysis, and is distributed as free software under the GNU General Public License. ...

GSCope3 performs microarray data analysis to find correlations between BLSOM clusters and any form of omic knowledge expressed in OSML. Includes example metabolic pathway, gene ontology, genome position, transcription and PPI knowledge in OSML format.

GEMMA, which stands for Genome, Environment, Microbiome and Metabolome in Autism, is a multicentre European Commission Project for exploring interactions between gut microbiome, metabolome, epigenome and immune function in order to discover new biomarkers useful for early diagnosis of autism and as potential targets for preventive personalized therapies. The European Commission has selected and financed GEMMA project as part of its Horizon 2020, the biggest EU Research and Innovation programme. https://www.gemma-project.eu/ Here we present the algorithms used in the omics data analysis of GEMMA project. ...

TABSAT - Targeted Amplicon Bisulfite Sequencing Analysis Tool A tool for analyzing targeted bisulfite sequencing data generated on an Ion Torrent PGM / Illumina MiSeq. The workflow starts with raw sequencing data, performs quality assessment, and uses a tailored version of Bismark to map the reads to a reference genome. Results are aggregated across all samples, presented in table format, and visualized as lollipop plots. In addition, due to the long read length of Ion Torrent reads, the pipeline is able to deduce specific methylation-patterns present in a sample. Please check out the Github page: https://github.com/tadkeys/tabsat