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http://code.google.com/p/popoolation/

A collection of tools to facilitate population genetic studies of next generation sequencing data from pooled individuals. It builds upon open source tools (bwa, samtools) and uses standard file formats (gtf, sam, pileup) to ensure a wide compatibility. PoPoolation allows to calculate Tajima's Pi, Watterson's Theta and Tajima's D for reference sequences using a sliding window approach. Alternatively these population genetic estimators may be calculated for a set of genes (provided as gtf). One of the main challenges in population genomics is to identify regions of intererest on a genome wide scale. PoPoolation will greatly aid this task by allowing a fast and user friendly analysis of NGS data from DNA pools.

Proper citation: PoPoolation (RRID:SCR_003495) Copy   

•   Source: SciCrunch Registry
  

https://github.com/delt0r/msms

A coalescent simulation software program for a structured population including recombination, demographic structure and selection at a single diploid locus.

Proper citation: MSMS (RRID:SCR_003532) Copy   

•   Source: SciCrunch Registry
  

http://www.humanvariomeproject.org/

Project facilitating the establishment and maintenance of standards systems and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease. The Human Variome Project produces two categories of recommendations: HVP Standards and HVP Guidelines. HVP Standards are those systems, procedures and technologies that the Human Variome Project Consortium has determined should be used by the community. These carry more weight than the less prescriptive HVP Guidelines, which cover those systems, procedures and technologies that the Human Variome Project Consortium has determined would be beneficial for the community to adopt. HVP Standards and Guidelines are central to supporting the work of the Human Variome Project Consortium and cover a wide range of fields and disciplines, from ethics to nomenclature, data transfer protocols to collection protocols from clinics. They can be thought of as both technical manuals and scientific documents, and while the impact of HVP Standards and Guidelines differ, they are both generated in a similar fashion. A document has been generated both as a guide for those collecting and distributing data and for those developing policy. Items should include those generated by HGVS/HVP collaborators as well as those generated by groups of individual Societies and Standards bodies in all relevant fields worldwide.

Proper citation: Human Variome Project (RRID:SCR_003492) Copy   

•   Source: SciCrunch Registry
  

http://www.c2b2.columbia.edu/danapeerlab/html/jistic.html

Software tool for analyzing datasets of genome-wide copy number variation to identify driver aberrations in cancer.

Proper citation: JISTIC (RRID:SCR_003482) Copy   

•   Source: SciCrunch Registry
  

https://bioconductor.org/packages/genomation/

Software R package for simplfiying common tasks in genomic feature analysis. Toolkit to summarize, annotate and visualize genomic intervals. Provides functions for reading BED and GFF files as GRanges objects, summarizing genomic features over predefined windows so users can make average enrichment of features over defined regions or produce heatmaps. Can annotate given regions with other genomic features such as exons,introns and promoters.

Proper citation: genomation (RRID:SCR_003435) Copy   

•   Source: SciCrunch Registry
  

http://www.genabel.org/packages/MetABEL

Software for meta-analysis of genome-wide SNP association results.

Proper citation: MetABEL (RRID:SCR_003429) Copy   

•   Source: SciCrunch Registry
  

https://github.com/dbitton/LaSSO

An R script that creates a FASTA database containing all possible lariat signatures from a given set of introns.

Proper citation: LaSSO (RRID:SCR_003418) Copy   

•   Source: SciCrunch Registry
  

http://www.metafor-project.org/doku.php

A free and open-source add-on for conducting meta-analyses with the statistical software environment R.

Proper citation: metaphor (RRID:SCR_003450) Copy   

•   Source: SciCrunch Registry
  

http://prosite.expasy.org/

Database of protein families and domains that is based on the observation that, while there is a huge number of different proteins, most of them can be grouped, on the basis of similarities in their sequences, into a limited number of families. Proteins or protein domains belonging to a particular family generally share functional attributes and are derived from a common ancestor. It is complemented by ProRule, a collection of rules based on profiles and patterns, which increases the discriminatory power of profiles and patterns by providing additional information about functionally and/or structurally critical amino acids. ScanProsite finds matches of your protein sequences to PROSITE signatures. PROSITE currently contains patterns and profiles specific for more than a thousand protein families or domains. Each of these signatures comes with documentation providing background information on the structure and function of these proteins. The database is available via FTP.

Proper citation: PROSITE (RRID:SCR_003457) Copy   

•   Source: SciCrunch Registry
  

http://www.bioconductor.org/packages/2.12/bioc/html/minfi.html

Software that improves the results from the Illumina infinium HumanMethylation450 BeadChips by reducing technical variation within and between arrays. SWAN is available in the minfi Bioconductor package.

Proper citation: SWAN (RRID:SCR_003455) Copy   

•   Source: SciCrunch Registry
  

https://code.google.com/p/bmiq/

Software using a beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data.

Proper citation: BMIQ (RRID:SCR_003446) Copy   

•   Source: SciCrunch Registry
  

http://gepat.sourceforge.net/

A web-based software tool offering an integrated analysis of transcriptome data under genomic, proteomic and metabolic context.

Proper citation: GEPAT (RRID:SCR_003597) Copy   

•   Source: SciCrunch Registry
  

http://osprey.ucalgary.ca/

Oligonucleotide design software that calculates optimal oligonucleotides for a range of tasks: sequence assembly, differential expression, and microarrays (cDNA and spotted oligos)., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: Osprey (RRID:SCR_003627) Copy   

•   Source: SciCrunch Registry
  

http://srna-tools.cmp.uea.ac.uk/

Software tools for the analysis of high-throughput small RNA data.

Proper citation: UEA sRNA toolkit (RRID:SCR_003620) Copy   

•   Source: SciCrunch Registry
  

http://khavarilab.stanford.edu/resources.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 6, 2023. An intersection-based pathogen detection workflow that utilizes a user-provided custom reference genome set for identification of nonhuman sequences in deep sequencing datasets. This is a package recommended for advanced users only.

Proper citation: RINS (RRID:SCR_003652) Copy   

•   Source: SciCrunch Registry
  

http://jexpress.bioinfo.no/site/

Gene expression analysis software using Java.

Proper citation: J-Express (RRID:SCR_003609) Copy   

•   Source: SciCrunch Registry
  

https://igor.sbgenomics.com/

A cloud platform for next-generation sequencing analysis.

Proper citation: Seven Bridges Genomics (RRID:SCR_008308) Copy   

•   Source: SciCrunch Registry
  

http://epicenter.immunbio.mpg.de/services/chromos/

Combines genetic and epigenetic data to facilitate SNP classification, prioritization and prediction of their functional effect.

Proper citation: ChroMoS (RRID:SCR_008320) Copy   

•   Source: SciCrunch Registry
  

http://bioinfo-out.curie.fr/projects/vamp/

Software for visualization and Analysis of CGH arrays, transcriptome and other Molecular Profiles.

Proper citation: VAMP (RRID:SCR_008527) Copy   

•   Source: SciCrunch Registry
  

http://www.bioconductor.org/packages/2.6/bioc/html/DEGseq.html

R package to identify differentially expressed genes from RNA-Seq data.

Proper citation: DEGseq (RRID:SCR_008480) Copy   

•   Source: SciCrunch Registry