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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.
http://sourceforge.net/projects/mutascope/
Software suite to analyze data from high throughput sequencing of PCR amplicons, with an emphasis on normal-tumor comparison for the accurate and sensitive identification of low prevalence mutations.
Proper citation: Mutascope (RRID:SCR_001265) Copy
Software resource for multiple whole genome alignment. It uses Nucmer, a custom graph-based segmentation procedure, for pairwise alignment, and the Seqan:TCoffee's multiple alignment strategy.
Proper citation: Mugsy (RRID:SCR_001414) Copy
http://www.codoncode.com/productsservices/phrap.htm#PHRED
A base calling program for DNA sequence traces.
Proper citation: Phred (RRID:SCR_001017) Copy
http://www.dnastar.com/t-genvision.aspx
A genomic visualization application to support easy generation of publication quality graphics and maps. It produces high quality images of annotated genomes but it can also be customized to accentuate specific areas of interest, such as comparing gene functionality, illustrating gene expression levels, and visualizing the coverage in an assembled contig.
Proper citation: GenVision (RRID:SCR_001166) Copy
http://www.codoncode.com/TraceViewer/index.htm
A Java program that allows you to see, print, and edit DNA sequencing traces.
Proper citation: CodonCodes TraceViewer (RRID:SCR_002304) Copy
A fast and accurate alignment tool for RNA-Seq data.
Proper citation: Omicsoft Sequence Aligner (RRID:SCR_005270) Copy
http://www.timelogic.com/catalog/799/velocimapper
Accelerated alignment tool for mapping data from next-generation DNA sequencing systems. It runs on TimeLogic''s newest FPGA-based DeCypher J-Series Similarity Search Engine Accelerator to provide fast and reliable results that significantly outperform software-only or GPU-accelerated alternatives.
Proper citation: VelociMapper (RRID:SCR_005262) Copy
http://www.pathxl.com/pathxl-research/pathxl-tma
Tissue microarray (TMA) Software used for Biomarker Discovery that allows TMA experiments to be performed anytime, anywhere, reducing administrative costs and time. It is designed to support TMA scoring workflow and allows configuration of experiments in minutes. Access and view clinical metadata, the TMA core, scoring criteria and the TMA map all on a single interface.
Proper citation: PathXL TMA (RRID:SCR_005596) Copy
http://www.dnabaser.com/download/chromatogram-explorer/
A Windows Explorer clone dedicated to DNA sequence analysis and manipulation. View, edit, and convert chromatograms. Trim low quality ends automatically. The Lite version of Chromatogram Explorer is freeware.
Proper citation: DNA Chromatogram Explorer (RRID:SCR_005585) Copy
http://gusevlab.org/projects/germline/
Software application for discovering long shared segments of Identity by Descent (IBD) between pairs of individuals in a large population. It takes as input genotype or haplotype marker data for individuals (as well as an optional known pedigree) and generates a list of all pairwise segmental sharing., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.
Proper citation: GERMLINE (RRID:SCR_001720) Copy
http://www.sanger.ac.uk/science/tools/olorin
An interactive filtering tool for next generation sequencing data coming from the study of large complex disease pedigrees. It integrates gene flow output from Merlin and next generation sequencing data. Users can interactively filter and prioritize variants based on haplotype sharing across different sets of selected individuals and allele frequency in reference datasets. (entry from Genetic Analysis Software)
Proper citation: OLORIN (RRID:SCR_002015) Copy
http://gmt.genome.wustl.edu/packages/breakdancer/
A Perl/C++ software package that provides genome-wide detection of structural variants from next generation paired-end sequencing reads. BreakDancerMax predicts five types of structural variants: insertions, deletions, inversions, inter- and intra-chromosomal translocations from next-generation short paired-end sequencing reads using read pairs that are mapped with unexpected separation distances or orientation. (entry from Genetic Analysis Software)
Proper citation: BREAKDANCER (RRID:SCR_001799) Copy
http://haplopainter.sourceforge.net/
A pedigree drawing program, suitable in processing haplotype outputs from GENEHUNTER, ALLEGRO, MERLIN, and SIMWALK (entry from Genetic Analysis Software)
Proper citation: HAPLOPAINTER (RRID:SCR_001710) Copy
http://nucleobytes.com/index.php/4peaks
Software application for viewing and editing sequence trace files.
Proper citation: 4Peaks (RRID:SCR_000015) Copy
https://mzmatch.sourceforge.net/MetAssign.php
Software that combines information from the mass-to-charge ratio, retention time and intensity of each peak, together with a model of the inter-peak dependency structure, to increase the accuracy of peak annotation. The software has been implemented as part of the mzMatch metabolomics analysis pipeline, which is available for download.
Proper citation: MetAssign (RRID:SCR_000092) Copy
http://code.google.com/p/annotare/
A software tool for annotating biomedical investigations and the resulting data, then producing a MAGE-TAB file. This software is a standalone desktop which features: an editor function, an annotation modifier, incorporation of terms from biomedical ontologies, standard templates for common experiment types, a design aid to help create a new document, and a validator that checks for syntactic and semantic violations.
Proper citation: Annotare (RRID:SCR_000319) Copy
http://apps.cytoscape.org/apps/pepper
A Cytoscape app designed to identify protein pathways / complexes as densely connected subnetworks from seed lists of proteins derived from pull-down assays (i.e AP-MS...).
Proper citation: PEPPER (RRID:SCR_000431) Copy
http://faculty.washington.edu/browning/beagle/beagle.html
Software package for analysis of large-scale genetic data sets with hundreds of thousands of markers genotyped on thousands of samples. BEAGLE can * phase genotype data (i.e. infer haplotypes) for unrelated individuals, parent-offspring pairs, and parent-offspring trios. * infer sporadic missing genotype data. * impute ungenotyped markers that have been genotyped in a reference panel. * perform single marker and haplotypic association analysis. * detect genetic regions that are homozygous-by-descent in an individual or identical-by-descent in pairs of individuals. Beagle can also be used in conjunction with PRESTO, a program for fast and flexible permutation testing. PRESTO can compute empirical distributions of order statistics, analyze stratified data, and determine significance levels for one-stage and two-stage genetic association studies. BEAGLE is written in Java and runs on any computing platform with a Java version 1.6 interpreter (e.g. Windows, Unix, Linux, Solaris, Mac).
Proper citation: BEAGLE (RRID:SCR_001789) Copy
http://bioconductor.org/packages/release/bioc/html/nondetects.html
Software R package to model and impute non-detects in results of qPCR experiments.Used to directly model non-detects as missing data.
Proper citation: nondetects (RRID:SCR_001702) Copy
https://www.apbenson.com/cyrillic-downloads
Software application for pedigree drawing with fully integrated risk analysis and support for industry standard databases (MS Access and Corel Paradox). It is designed for genetic counselors and others who work with patients. Cyrillic 2 draws pedigrees, works with genetic marker data, lets you do haplotyping and allows exports to a range of linkage analysis packages.
Proper citation: CYRILLIC (RRID:SCR_001823) Copy
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