Search Results for "snp" - Page 2
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Showing 120 open source projects for "snp"
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HubSpot is an AI-powered customer platform with all the software, integrations, and resources you need to connect your marketing, sales, and customer service. HubSpot's connected platform enables you to grow your business faster by focusing on what matters most: your customers.
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SPANDx
Comparative analysis of haploid next-generation genome sequence data
SPANDx is your one-stop tool for identifying SNP and indel variants in haploid genomes using NGS data. SPANDx performs alignment of raw NGS reads against your chosen reference genome or pan-genome, followed by accurate variant calling and annotation, and locus presence/absence determination. SPANDx produces SNP and indel matrices for downstream phylogenetic analyses. Annotated, genome-wide SNPs and indels can also be identified if specified, and are output in human readable format. A presence... -
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Edesign
Primer and enhanced internal probe design tool
Edesign is a design tool for PCR primers together with an internal probe for conducting quantitative PCR and genotypic experiments. - Functions for designing internal probes are greatly enhanced. - "Genotyping mode" provides design of the internal probe over a user-specified target variant e.g. (SNP, insert/deletion, somatic mutation etc) for genotyping. - Modified oligonucleotide can be designed. The original Edesign treats Eprobe and Eprimer. For technical support please contact: contact... -
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6. DHOEM (Windows)
R function which incorporates simulated markers to a real data set
DHOEM (Densification of Haplotypes by lOEess and Maximum Likelihood) is a novel R application which performs simulation of new markers in real SNP marker data. The new markers are generated according to real local data characteristics, modeled statistically, and are interpolated locally between real markers in the data. The function allows the user to specify a desired level of marker density, with a minor allele frequency (MAF) limit, which is produced in a reasonable computation time... -
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5.Kernelized qtl-haplotype mapping (HPC)
Fortran/R program for kernelized qtl-haplotype mapping by mixed model
Kernelized qtl-haplotype mapping (named KHAMMIX) is a Fortran/R program which performs parallel haplotype based scans of chromosomes, by mixed model analyses, for diploid organisms. Two kernels; the Gaussian and Van Raden kernels, are allowed for the mixed model analyses. The haplotypes are defined by a sliding window of L SNP markers (L is an integer greater or equal to 1). Hence, 2^L haplotypes can be (not necessarily) observed for a sliding window (e.g. 2^6=64 for L=6). Reference: http... -
SysAid is an ITSM, Service Desk and Help Desk software solution that integrates all of the essential IT tools into one product. Its rich set of features include a powerful Help Desk, IT Asset Management, and other easy-to-use tools for analyzing and optimizing IT performance.
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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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IntParser
Code for parsing and subsetting UKBB Intensity data
WARNING this code is LARGELY UNTESTED. It can be used to pick a subset of SNPs from UKBB binary intensity format and convert them into text format , or transpose them so you can look at then per SNP. It can also be used to convert UKBB binary intensity data to Evoker's .bnt binary intensity format. -
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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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GSA-SNP is a gene set analysis software that can process SNP data as well as gene and haplotype data.
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An integrated pipeline for forensic analysis from SNP panel data. 1. SNP caller takes a FASTQ file and reference SNP panel as input and generates SNP calls. 2. Kinship analysis 3. Ancestry prediction 4. Data quality check 5. Replicate analysis 6. Mixture analysis module available by request
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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
NEWS: 11-07-2013 A new version Virmid 1.1.0 has been uploaded. 08-29-2013 Virmid paper is now published in Genome Biology. Kim S et al, "Virmid: accurate detection of somatic mutations with sample impurity inference", Genome Biology 2013, 14:R90 http://genomebiology.com/2013/14/8/R90/abstract Virmid (Virtual Microdissection for SNP calling) is a Java based variant caller designed for disease-control matched samples. Virmid is also specialized for identifying potential within individual... -
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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... -
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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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SNiPlay is a web-based pipeline and database for SNP analysis and management
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gametes
Generate complex SNP models and heterogeneous datasets
Genetic Architecture Model Emulator for Testing and Evaluating Software (GAMETES) is an algorithm for the generation of complex single nucleotide polymorphism (SNP) models for simulated association studies. GAMETES is designed to generate epistatic models which we refer to as pure and strict, that constitute the worst-case in terms of detecting disease associations, since such associations may only be observed if all n-loci are included in the disease model. User friendly GAMETES software... -
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2bRAD-denovo
THIS REPOSITORY HAS BEEN MOVED TO GITHUB
Download the latest updates from https://github.com/z0on/2bRAD_denovo 2bRAD is a method for cost-efficient whole-genome genotyping, described in Wang et al 2012 http://www.nature.com/nmeth/journal/v9/n8/abs/nmeth.2023.html This project is about analyzing 2bRAD data without a genome reference. Scripts and walkthroughs for: - trimming and quality filtering; - removing PCR duplicates; - assembling loci; - calling variants (SNP-wise and haplotype-wise); - recalibrating quality scores based... -
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GTFplus
Prediction of SNP > SAP; generation of proteotypic peptides
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. -
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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... -
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diggit
R package for DIGGIT algorithm
DIGGIT identify genetic variants associated with drivers of specific physiopathologic states. I computes the statistical association between the presence of genetic variants (CNV or SNP) and the activity of proteins driving physiologic or pathologic phenotype. It requires large gene expression and genetic variants datasets and depends on context-specific regulatory networks including transcriptional interactomes (usually reverse engineered by the ARACNe algorithm) and post-translational... -
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MethylExtract
High-Quality methylation maps and SNV calling from BS-Seq experiments
MethylExtract is a user friendly tool to generate i) high quality, whole genome methylation maps and ii) to detect sequence variation within the same sample preparation. 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... -
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SUPER-W
Simply Unified Pair-End Read Workflow for SNPs and DIPs
SUPER-W (Simply Unified Pair-End Read Workflow) was developed to create a dynamic and fast tool to analyze the variation data (SNP and DIPs) produced from the resequencing experiments -
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2kplus2
A 2k+2 cycle enumeration for SNP discovery using graphs
This project is for 2k+2 cycle enumeration for SNP discovery using graphs. -
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HomSI
Homozygous Stretch Identifier from next-generation sequencing data
In consanguineous families, as a result of inheriting the same genomic segments through both parents, the individuals have stretches of their genomes that are homozygous. This situation leads to the prevalence of recessive diseases among the members of these families. 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... -
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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 were...