Search Results for "snp"
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Showing 20 open source projects for "snp"
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BisSNP
Bisulfite-seq/NOMe-seq SNPs & cytosine methylation caller
...It works for both of single-end and paired-end reads.Specificity and sensitivity has been validate by Illumina IM SNP array. In default threshold 30X data (Phred scale score > 20), it could detect 92.21% heterozygous SNPs with 0.14% false positive rate Cytosine calling is not only based on reference context, so it could detect non-reference cytosine context. Google group for help: http://goo.gl/zL7Nj -
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REHUNT
REHUNT (Restriction Enzymes HUNTing)
REHUNT (Restriction Enzymes HUNTing) is a free and open source package implemented in JAVA for providing many useful methods for biological sequence analysis (especially in SNP genotyping) around restriction enzymes. All academic researchers are encouraged to use REHUNT in their studies or to integrate it into their systems and applications. Non-academic users or commercial needs are also welcome to use it. For further information or additional applications, please contact the author Yu-Huei Cheng <yuhuei.cheng@gmail.com>. -
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GSA-SNP is a gene set analysis software that can process SNP data as well as gene and haplotype data.
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Virmid
Virtual Microdissection for SNP calling
...The important features of Virmid are: •Estimation of accurate proporation of control sample in a (mixed) disease sample •Improved SNP and somatic mutation calling with regard to the estimated proportion -
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Auto Primer3
Automatically design primers to genes/coordinates using primer3.
PLEASE NOTE: THIS PROJECT PAGE WILL NO LONGER BE UPDATED - PLEASE USE THE GITHUB PAGE (https://github.com/gantzgraf/autoprimer3) TO FIND THE LATEST RELEASE (https://github.com/gantzgraf/autoprimer3/releases/latest). AutoPrimer3 retrieves gene information, DNA sequences and SNP information from the UCSC genome browser and uses primer3 to automatically design primers to genes or genomic coordinate targets. Primers may be designed using information from any of the UCSC hosted genomes and primers can be made to avoid overlapping SNPs for genomes where SNP databases are available. -
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gametes
Generate complex SNP models and heterogeneous datasets
...Version 2.0, adds the ability to generate heterogeneous datasets by applying multiple independent models to different subsets of the simulated data. Additionally we have added a custom model generation feature, so that users may directly specify and examine the properties of any 2 or 3 locus SNP model. Simple Mendelian models may also be generated with this feature. -
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HomSI
Homozygous Stretch Identifier from next-generation sequencing data
...Homozygosity mapping is based on this observation and several recessive disease genes have been discovered with the help of this technique in consanguineous families. The researchers typically use SNP arrays to determine the homozygous regions and then search for the disease gene by sequencing the genes within this candidate disease loci. Recently, the advent of next generation sequencing enables the concurrent identification of homozygous regions and the detection of mutations relevant for diagnosis, using data from a single sequencing experiment. ... -
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Athus
Manage, merge, filter and convert population genetics data
This project assists you in performing population genetic analyses by taking over the ugly, boring and error-prone data manipulation steps. Starting from well specified input formats VCF, BED and FASTA and a unique configuration file describing data (f.e. from SNP-arrays or sequencing) as well as filtering one can create standard POPGEN formats like Eigenstrat, PEDMAP (PLINK), Treemix ... In addition there are several utilities for * generating VCF from SNPArray data (NCBI - GEO, Illumina call files) * work with genetic maps ... -
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This package contains code for use with Short Read DNA Sequencing technologies, and includes packages for ChIP-Seq, Whole Transcriptome Shotgun Sequencing, Whole Genome Shotgun Sequencing, SNP Detection, Transcript expression and file conversion.
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CallSim
low-volume read processing base corrector
CallSim is a software application that provides evidence for the validity of base calls believed to be sequencing errors and it is applicable to Ion Torrent and 454 data. CallSim provides a final classification or rescue of a base/indel in reads, where putative variants have been identified via typical SNP/indel workflows. plots rendered by: JFreeChart library http://sourceforge.net/projects/jfreechart/ -
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BatchPD
BatchPD: Batch automation of a primer design pipeline for human genes
...Research paper publication: http://www.bioinformation.net/008/97320630008365.htm BatchPD checks specificity via in-silico PCR, provide gene/exon specific relevant information summarised in an end spread-sheet; Primer design, PCR checks and other relevant information are queried from existing online tools with BatchPD acting as an intermediate to handle queries and results processing. BatchPD interfaces with the following online bioinformatic resources: * NCBI's GenBank * USCS's Genome browser * ExonPrimer Optional extra SNP checks can be carried out via the web tool: SNPCheck. BatchPD Uses the HtmlCleaner package: http://htmlcleaner.sourceforge.net/ -
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MSA2SNP is a tool for mining SNP sites in multiple sequence alignment (MSA). This tool inherits the easy-to-use interface from MEGA4 Explorer with advance data presentation. MSA2SNP lets you visualize alignments and import from CLUSTAL program directly.
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CloudBurst is a parallel read-mapping algorithm optimized for mapping next-generation sequence data to the human genome and other reference genomes, for use in a variety of biological analyses including SNP discovery, genotyping, and personal genomics.
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Genevar (GENe Expression VARiation) is a platform of database and web services for the integrative analysis and visulization of SNP-gene assocaitaions in eQTL studies.
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Avenzoar is a one-year exploration of renal cell carcinoma morphology and its related single nucleotide polymorphisms (SNPa) as a method of automating diagnosis of cancer by using a computer-aided decision tree controlled by analytical statistics.
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MAGMA: Multiobjective Analyzer for Genetic Marker Acquisition A genetic algorithm for generating SNP tiling paths from a large SNP database based on the competing objectives of cost (number of SNPs) and coverage (haplotype blocks): Hubley R., Zitzler
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DawgPack is an ultra-fast, Cloud-based tool that maps many high coverage genomes and performs analysis to find clues for pathogenesis. It will integrate CNV, SNP, RNA-Seq and ChIP-Seq analyses.
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