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http://www.math.mtu.edu/~shuzhang/software.html
Software application for testing association using tightly linked markers in nuclear pedigrees (entry from Genetic Analysis Software)
Proper citation: HS-TDT (RRID:SCR_009240) Copy
http://research.nhgri.nih.gov/ROMPrev/
Software tool for testing for association between polymorphisms and quantitative traits, as well as estimating trait heritability and locus-specific heritability using family data. (entry from Genetic Analysis Software)
Proper citation: ROMPREV (RRID:SCR_009361) Copy
http://www.unc.edu/~yunmli/MaCH-Admix/
A genotype imputation software that is an extension to MaCH for faster and more flexible imputaiton, especially in admixed populations. It has incorporated a novel piecewise reference selection method to create reference panels tailored for target individual(s). This reference selection method generates better imputation quality in shorter running time. MaCH-Admix also separates model parameter estimation from imputation. The separation allows users to perform imputation with standard reference panels + pre-calibrated parameters in a data independent fashion. Alternatively, if one works with study-specific reference panels, or isolated target population, one has the option to simultaneously estimate these model parameters while performing imputation. MaCH-Admix has included many other useful options and supports VCF input files. All existing MaCH documentation applies to MaCH-Admix.
Proper citation: MaCH-Admix (RRID:SCR_009598) Copy
http://www.openbioinformatics.org/annovar/
An efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes (including human genome hg18, hg19, as well as mouse, worm, fly, yeast and many others). Given a list of variants with chromosome, start position, end position, reference nucleotide and observed nucleotides, ANNOVAR can perform: 1. gene-based annotation. 2. region-based annotation. 3. filter-based annotation. 4. other functionalities. (entry from Genetic Analysis Software)
Proper citation: ANNOVAR (RRID:SCR_012821) Copy
https://github.com/Gregor-Mendel-Institute/poolhap
Software tool for inferring haplotypes from pooled sequencing. Enables to infer strain numbers and haplotype frequencies in silico from sequences of pooled samples.
Proper citation: PoolHap (RRID:SCR_012129) Copy
http://www.jurgott.org/linkage/simulate.html
Software program to simulate genotypes in family members for a map of linked markers unlinked to a given affection status locus. the output is ready for analysis with UNKNOWN, ISIM, LSIM, or MSIM of the SLINK package. (entry from Genetic Analysis Software)
Proper citation: SIMULATE (RRID:SCR_009391) Copy
http://wpicr.wpic.pitt.edu/WPICCompGen/fdr/
Software application (entry from Genetic Analysis Software)
Proper citation: WEIGHTED FDR (RRID:SCR_013442) Copy
http://cuke.hort.ncsu.edu/cucurbit/wehner/software.html
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 24,2023. SAS software program to estimate genetic effects and heritabilities of quantitative traits in breeding populations consisting of six related generations (entry from Genetic Analysis Software)
Proper citation: SASQUANT (RRID:SCR_013122) Copy
http://www.aps.uoguelph.ca/~msargol/qmsim/
Software application designed to simulate a wide range of genetic architectures and population structures in livestock. Large scale genotyping data and complex pedigrees can be efficiently simulated. QMSim is a family based simulator, which can also take into account predefined evolutionary features, such as LD, mutation, bottlenecks and expansions. The simulation is basically carried out in two steps: In the first step, a historical population is simulated to establish mutation-drift equilibrium and, in the second step, recent population structures are generated, which can be complex. QMSim allows for a wide range of parameters to be incorporated in the simulation models in order to produce appropriate simulated data. (entry from Genetic Analysis Software)
Proper citation: QMSIM (RRID:SCR_013123) Copy
https://imdevsoftware.wordpress.com/imdev/
A software application of RExcel that integrates R into Excel as an embedded additon for omics tasks and analysis. It can be used specifically for tasks concerning multivariate data visualization, exploration, and analysis. imDev has interactive modules for dimensional reduction, prediction, feature selection, analysis of correlation, and generation of networked structures, all of which provide an integrated environment for systems level analysis of multivariate data.
Proper citation: imDEV (RRID:SCR_014674) Copy
A package of over twenty mass spectrometry-based tools primarily geared toward proteomic data analysis and database mining. It can be run from the command line, but is primarily used through a web browser, and there is a public website that allows anyone to use the software without local installation. Tandem mass spectrometry analysis tools are used for database searching and identification of peptides, including post-translationally modified peptides and cross-linked peptides. Support for isotope and label-free quantification from this type of data is provided. MS-Viewer software allows sharing and displaying of annotated spectra from many different tandem mass spectrometry data analysis packages. Other tools include software for analyzing peptide mass fingerprinting data (MS-Fit); prediction of theoretical fragmentation of peptides (MS-Product); theoretical chemical or enzymatic digestion of proteins (MS-Digest); and theoretical modeling of the isotope distribution of any chemical, including peptides (MS-Isotope). Searches using amino acid sequence can be used to identify homologous peptides in a database (MS-Pattern); the use of the combination of amino acid sequence and masses can be used for homologous peptide and protein identification using MS-Homology. Tandem mass spectrometry peak list files can be filtered for the presence of certain peaks or neutral losses using MS-Filter. Given a list of proteins, MS-Bridge can report all potential cross-linked peptide combinations of a specified mass. Given a precursor peptide mass and information about known amino acid presence, absence, or modifications, MS-Comp can report all amino acid combinations that could lead to the observed mass.
Proper citation: Protein Prospector (RRID:SCR_014558) Copy
https://github.com/bionitio-team/bionitio
Open source software tool to provide template for command line bioinformatics tools in various programming languages. Program reads one or more input FASTA files, computes variety of statistics on each file, and prints tabulated output. Used as basis for learning and as foundation for starting new projects.
Proper citation: Bionitio (RRID:SCR_017259) Copy
http://sourceforge.net/projects/ipig/
Standalone software tool for the integration of peptide identifications from mass spectrometry experiments into existing genome browser visualizations.
Proper citation: iPiG (RRID:SCR_016164) Copy
https://github.com/HMPNK/CSA2.6
Software pipeline for high-throughput chromosome level vertebrate genome assembly. Pipeline, which after contig assembly performs post assembly improvements by ordering assembly and closing gaps, as well as splitting of low supported regions.
Proper citation: Chromosome Scale Assembler (RRID:SCR_017960) Copy
Software Python package enabling Biological Expression Language to act as semantic integration layer for multi modal and multi scale data sets in life sciences. Used for integrating biological databases and structured data sources in BEL. Has ability to support curation of pathway mappings, integration of pathway databases, and machine learning applications.
Proper citation: Bio2BEL (RRID:SCR_017659) Copy
https://github.com/dmis-lab/biobert
Pre-trained biomedical language representation model for biomedical text mining. This repository provides fine-tuning codes of BioBERT, language representation model for biomedical domain, especially designed for biomedical text mining tasks such as biomedical named entity recognition, relation extraction, question answering, etc.
Proper citation: BioBERT (RRID:SCR_017547) Copy
https://bioconductor.org/packages/EpiDISH/
Software R package provides tools to infer proportions of priori known cell-types present in sample representing mixture of such cell-types. Comparison of reference based algorithms for correcting cell-type heterogeneity in Epigenome-Wide Association Studies.
Proper citation: EpiDISH R package (RRID:SCR_018004) Copy
https://github.com/OpenMendel/MendelIHT.jl
Software Julia package that implements iterative hard thresholding as multiple regression model for GWAS. Built-in support for handling PLINK and VCF files, parallel computing, fits a variety of GLM models, and handles grouping/weighting SNPs.
Proper citation: MendelIHT.jl (RRID:SCR_018292) Copy
https://github.com/smajidian/phaseme
Software tool set to assess quality of per read phasing information and help to reduce errors during this process.
Proper citation: PhaseME (RRID:SCR_018739) Copy
Software distribution management for life sciences. Channel for Conda package manager specializing in bioinformatics software. Consists of repository of recipes hosted on GitHub, build system turning these recipes into conda packages, repository of packages containing bioinformatics packages ready to use with conda install.
Proper citation: BioConda (RRID:SCR_018316) Copy
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