Search Results for "snp" - Page 2
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Showing 96 open source projects for "snp"
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SPRITE
Parallel SNP detection pipeline
SPRITE is an open-source software package providing a parallel implementation of the Single Nucleotide Polymorphisms (SNP) detection genomic data analysis workflow. It consists of three tools: PRUNE for read alignment, SAMPA for intermediate file processing, and PARSNIP for parallel SNP calling. -
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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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OPTPDT
OPTPDT is a family-based multi-SNP association test
OPTPDT is a family-based multi-SNP association test. A variable p-value threshold algorithm is used in the test to select an optimal subset of SNPs that has the strongest association signals. -
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GOBIG is a toolbox that can be used for detecting genetic variations. The project is intended to handle big data. What's more important is that it be used to detect clusters of SNP variants. It is the intention to use the toolbox with common and rare variants. To use it, for example, to find the genetic map of genes causing complex diseases.
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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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SNiPlay is a web-based pipeline and database for SNP analysis and management
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vcfhacks
simple to use commandline programs for VCF filtering and manipulation
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. -
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coval
Improving the quality of short read alignment data
Coval is designed to minimize the incidence of spurious alignment of short reads, by filtering mismatched reads that remained in alignments after local realignment and error correction of mismatched reads, thereby increasing the calling accuracy of currently available tools for SNP and indel identification. -
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CCH
A genetics tool that identifies genomic regions of shared ancestry
Combinatorial Conflicting Homozygosity (CCH) uses dense Single Nucleotide Polymorphism (SNP) genotypes to identify regions of the genome inherited from a common ancestor among any or all subsets of a group. Analysis is rapid and can identify loci containing genes for dominant traits. CCH is robust to the presence of phenocopies and can detect undisclosed shared common ancestry. The associated publication regarding CCH may be accessed here: http://www.biomedcentral.com/1471-2164/16/163 If you use CCH please cite: Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH, Gale DP. ... -
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MethylExtract
High-Quality methylation maps and SNV calling from BS-Seq experiments
...The program is implemented into a single script and takes into account all major error sources: sequencing errors, bisulfite failure, clonal reads and single nucleotide variants. MethylExtract detects variation (SNVs – Single Nucleotide Variation) in a similar way than VarScan, a very sensitive method extensively used in SNP and genotype calling based on non-bisulfite treated reads. -
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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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AFSM_seq
a simple and rapid method for genome-wide SNP and methylation site
Reference based analysis 1.Filter the raw reads obtained from Illumina Raw Data (paired-ends)according to your desired stringency, to produce a set of high-quality (HQ) sequences in fastq format. 2.Lignment reads (HQ, Fastq format) against Barcode file (Fasta format) using scanAP program. 3.Trim barcodes and filter paired-ends using trim_seq.pl. Classified paired-ends using fltfastq2pe.pl. to produce output “R1.trim.pair.fastq” and “R2.trim.pair.fastq”. 4.The filtered sequence reads... -
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GenomicVis
Genomic data visualisation
GenomicVis is a R package that contains a collection of function for the visualisation of genomic data typically derived from high-throughput whole genome sequencing and SNP-Chip experiments. Most of the functions provided by this package are agnostic about where the data actually comes from, that is, they required input in simple data.frame instances that are not tied to a particular file format; however, we also provide many examples of creating these simply data.frames from standard file formats such as VCFs and from common software tools such as GAP and Breakdancer -
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Lep-MAP
fast and accurate linkage map construction for large SNP datasets
...Note there is a new version, Lep-MAP2 available in https://sourceforge.net/projects/lepmap2/ Also note a bug in Lep-MAP: genotype alleles should be given in numerical order like "1 2", not as "2 1". If you use Lep-MAP, please cite Lep-MAP: fast and accurate linkage map construction for large SNP datasets Pasi Rastas; Lars Paulin; Ilkka Hanski; Rainer Lehtonen; Petri Auvinen Bioinformatics 2013; doi: 10.1093/bioinformatics/btt563 -
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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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DNAA is the DNA analysis package, for analyzing next-generation post-alignment whole genome resequencing data. Specifically, DNAA is able to find structural variation, SNP and indel variants, as well as evaluating the mapping and data quality.
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AWclust is easy to use non-parametric population structure analysis software written for R with a GUI interface. Just point and click and you will be on your way to discovering the important cluster information in your SNP data sets.
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GwasLD
Quick search the LD SNPs against reported GWAS Catalog.
we invented a simple desktop stand-alone program (GWAS-LD) and also web-based program to identify the previous GWAS SNPs and the reported traits in high linkage disequilibrium (LD) state with a query SNP. To make the program, we downloaded all GWAS SNPs from GWAS catalogue database (http://www.genome.gov) and investigated all proxy (in 1 Mbp) SNPs which was in high LD (r2 = 0.9) with the reported GWAS SNPs by SNAP program (http://www.broadinstitute.org/mpg/snap). -
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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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Snp Viewer
A program for visualising Affymetrix SNP array data
A program for visualising Affymetrix SNP array data for identification regions of homozygosity. Written to aid autozygosity mapping and aid the discovery of potential disease loci. -
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SNPTools is a suite of tools that enables integrative SNP analysis in next generation sequencing data with large cohorts. It not only calls SNP in a population with high sensitivity and accuracy, but also employs a novel imputation engine to achieve highly accurate genotype calling and phasing in an efficient way.
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Genome-wide SNP calling for NGS data
seeders's technological scripts
