Search Results for ".vcf tools"

Binary files for the variantkey library: https://github.com/Genomicsplc/variantkey The binary files are generated using the script: https://github.com/Genomicsplc/variantkey/blob/master/resources/tools/vkhexbin.sh from the Human Variation Sets in VCF Format [National Library of Medicine (NLM)]: ftp://ftp.ncbi.nih.gov/snp/organisms/

Main application is twofold: first to convert genotype SNP data into formats of different imputation tools like PLINK MACH, IMPUTE, BEAGLE and BIMBBAM, second to transform imputed data into different file formats like PLINK, HAPLOVIEW, EIGENSOFT and SNPTEST. Readable file formats: plink-pedigree (ped and map), plink-raw, plink-dosage, mach , minimac, impute, snptest, beagle and bimbam. Similarly all kinds of imputation of outputs are also accepted. Formats which can be generated...

he decreasing cost high-throughput technologies led to a number of sequencing projects consisting thousands of whole genomes. The paradigm shift from exome to whole genome brings a significant increase in the size of output files. Most of the existing tools which are developed to analyze exome files are not adequate for large VCF files produced by whole genome studies. In this work we present VCF-Explorer, a variant analysis software capable of handling large files. Efficient memory management...

convert csv2vcf csv2vcf,csv,vcf,android,addressbook,address,book http://dwaves.de/tools/csv2vcf/

A Java application to analyse Molecular Inversion Probe sequencing data within short time. Running the pipeline requires previous installation of three general tools: BWA, GATK and Bedtools. Input: For running the pipeline you need to specify 3 arguments. An example of the command is given below. The two input files are essential to specify the sample and run configuration. The environment argument should always be set to EMPTY. A brief description of other required files can be found...

A set of tools for working with VCF files, such as those generated by the 1000 Genomes Project. This project is migrating to github: https://vcftools.github.io/

Hadoop-BAM is a Java library for the manipulation of files in common bioinformatics formats using the Hadoop MapReduce framework with the Picard SAM JDK, and command line tools similar to SAMtools. The file formats currently supported are BAM, SAM, FASTQ, FASTA, QSEQ, BCF, and VCF. For a longer high-level description of Hadoop-BAM, refer to the article "Hadoop-BAM: directly manipulating next generation sequencing data in the cloud" in Bioinformatics Volume 28 Issue 6 pp. 876-877...

PLEASE NOTE: THIS PROJECT PAGE WILL NO LONGER BE UPDATED - PLEASE USE THE GITHUB PAGE (https://github.com/gantzgraf/vcfhacks) TO FIND THE LATEST RELEASE (https://github.com/gantzgraf/vcfhacks/releases/latest). (relatively) Simple to use commandline tools for the manipulation and analysis of VCF files, geared towards the identification of pathogenic mutations in Mendelian disease.

This tools translates mRNA transcripts containing mutations of SNP in the VCF format. It accepts Annovar annotation files and incrorporates them into a single table containing translated SNPs. GTFplus predicts potential proteotypic peptides basing on the uniquness of the sequence.

vcf2csv is a command line tool, written in ANSI-C (C90), converts a vcard (vcf) file to csv. Please note: the ability to generate HTML-files will be removed in the near future.

The VCF Builder is an advanced development tool for creating C++ applications, and supporting a wide number of plugins for enhancing it's functionality. While the VCF Builder is capable of creating generic C++ applications, it's forte is building GUI ap