Showing 96 open source projects for "snp"

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  • 1
    Integrated Pipeline for Genome-Wide Association Studies
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  • 2
    ALCHEMY is a genotype calling algorithm for Affymetrix and Illumina products which is not based on clustering methods. Features include explicit handling of reduced heterozygosity due to inbreeding and accurate results with small sample sizes
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  • 3
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  • 4

    TRAMS

    TRAMS stands for "Tool for Rapid Annotation of Microbial SNPs".

    TRAMS annotates SNPs between microbial genomes using a tab-delimited SNP file and a reference genome (EMBL or Genbank format).
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  • 5

    hrefinder

    Detection of homologous recombination events from SNP data

    This software detects homologous recombination events (HREs) from SNP data. Based on SNP alleles calls and locations, it breaks the genomes into locally colinear blocks, and looks for cases where SNPs do not agree with the vertical pattern of inheritance in a phylogeny. It applies a dynamic programming algorithm to model whether changes within a block are likely a result of mutations, sequencing errors, or HRE.
    Downloads: 1 This Week
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  • 6

    mendelFix

    Correction of SNP Mendelian errors in trio data

    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. ...
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  • 7

    hrefinder

    Detection of homologous recombination events from SNP data

    This software detects homologous recombination events (HREs) from SNP data. Based on SNP alleles calls and locations, it breaks the genomes into locally colinear blocks, and looks for cases where SNPs do not agree with the vertical pattern of inheritance in a phylogeny. It applies a dynamic programming algorithm to model whether changes within a block are likely a result of mutations, sequencing errors, or HRE.
    Downloads: 0 This Week
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  • 8
    SNP call for 454 assembly
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  • 9
    Biscap and cfdr

    Biscap and cfdr

    Scripts for post-alignment snp-calling and verification

    A script for determining homozygous and heterozygous positions from an alignment using binomial probabilities from a predicted error rate (BiSCaP) and a method to benchmark the accuracy of this and other alignment/SNP-calling methods (cFDR)
    Downloads: 0 This Week
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  • 10

    DMETANALYZER

    A tool for supporting pharmacogenomics data analysis

    We developed DMET-Analyzer a tool for the automatic association analysis among the variation of the patient genomes and the clinical conditions of patients, i.e. the different response to drugs. The proposed system allows: (i) to automatize the workflow of analysis of DMET-SNP data avoiding the use of multiple tools; (ii) the automatic annotation of DMET-SNP data and the search in existing databases of SNPs (e.g. dbSNP), (iii) the association of SNP with pathway through the search in PharmaKGB, a major knowledge base for pharmacogenomic studies. DMET-Analyzer has a simple graphical user interface that allows users (doctors/biologists) to upload and analyse DMET files produced by Affymetrix DMET-Console in an interactive way.
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  • 11

    MCPerm: Monte Carlo SNP permutation

    Monte Carlo permutation method for SNP multiple test correlation

    MCPerm: A Monte Carlo permutation method for multiple test correlation in case-control association study Traditional permutation (TradPerm) test is an important non-parametric analysis method which can be treated as the gold standard for multiple testing corrections in case-control association study. However, it relies on the original single nucleotide polymorphism (SNP) genotypes and phenotypes data to perform a large number of random shuffles, and thus it is computationally intensive, especially for genome-wide association study (GWAS). To improve the calculation speed without changing the size of the TradPerm p-value, we developed a Monte Carlo permutation (MCPerm) method as an efficient alternative to TradPerm. ...
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  • 12

    multipsq

    Analysis of pyrograms form multiplex pyrosequencing experiments

    ...The assays can be designed using the software mpsqed available from https://sourceforge.net/projects/mpsqed/ Pyrosequencing can be applied for Single-Nucleotide-Polymorphism (SNP)-based pathogen typing or for providing sequence information of short DNA stretches. However, for some pathogens molecular typing cannot be performed relying on a single SNP or short sequence stretch, necessitating the consideration of several genomic regions. A promising rapid approach is the simultaneous application of multiple sequencing primers, called multiplex pyrosequencing. ...
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  • 13
    THIS PROJECT HAS MOVED TO GITHUB
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  • 14

    SPA - SNP based pathway analysis

    SNP based pathway analysis

    Name: SPA Full name: SNP based pathway analysis Maintainer: jiangyongshuai@gmail.com liuguiyou1981@163.com Language: R package Description: SPA is an R package which can identify disease or phenotype related pathways. Input rs# and GWAS test p-values, you can get the related pathways.
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  • 15
    SNP-SNP epistatsis simulator
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  • 16
    G-SNPM is a tool that maps a short sequence (read) representative of a SNP against a reference DNA sequence in order to find the absolute position of the SNP in that sequence.
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  • 17

    qpure

    Tool to assess tumour sample cellularity from SNP arrays.

    qpure is an R script that uses copy-number and B allele frequency data from Illumina Omni 1M genotyping (SNP) arrays to assess the tumour content (cellularity) of cancer tissue samples.
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  • 18

    Bis-SNP

    Bisulfite-seq/NOMe-seq SNPs & cytosine methylation caller

    Bis-SNP is a package based on the Genome Analysis Toolkit (GATK) map-reduce framework for genotyping in bisulfite treated massively parallel sequencing (Bisulfite-seq, NOMe-seq and RRBS) on Illumina platform. It uses bayesian inference with either manually specified or automatically estimated methylation probabilities of different cytosine context(not only CpG, CHH, CHG in Bisulfite-seq, but also GCH et.al. in other bisulfite treated sequencing) to determine genotypes and methylation levels simultaneously. ...
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  • 19

    SNP-Analyzer

    SNP-Analyzer

    SNP-Analyzer is a tool for the efficient Analysis and management of Affymetrix SNP DMET Data analysis
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  • 20
    CallSim

    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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  • 21

    bint

    Converts intensity text files to binary for fast subsetting

    bint was written for the purpose of obtaining subsets of intensity data from genotyping assays. Either the X & Y intensities for creating cluster plots or Log R Ratio and B Allele Frequencies for CNV detection. Extracting the data for individual SNP/CNV markers or individual samples was slow grep/awk'ing the text files exported from the genotyping run (e.g. Illumina final report files). bint converts the text representation of the intensity float data to into a IEEE754 indexed binary file for rapid extraction of subsets of the data. In theory bint could be used for any large tables of float data.
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  • 22

    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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  • 23
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  • 24
    AnnTools is an efficient, fast and robust bioinformatics tool annotating SNP and CNV calls generated from sequencing and microarray data.
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  • 25
    MUMmer is a modular system for the rapid whole genome alignment of finished or draft sequence. This package provides an efficient suffix tree library, seed-and-extend alignment, SNP detection, repeat detection, and visualization tools.
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    Downloads: 76 This Week
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