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http://www.unc.edu/~yunmli/betaseq/
Software to control Type-I error inflation in partially sequenced data for rare variant association testing. It is typically used to combine sequence and genotype data for the two stage design, in which individuals sequenced in stage one for variant detection are solely or predominantly cases then in stage two the discovered variants are genotyped in the remaining individuals. BETASEQ can work with any existing rare variant association methods that use genotypes or imputed genotypes as input.
Proper citation: BETASEQ (RRID:SCR_006401) Copy
https://bioconductor.org/packages/IRanges/
Software tool for computing and annotating genomic ranges.Provides efficient low-level and highly reusable S4 classes for storing ranges of integers, RLE vectors (Run-Length Encoding), and, more generally, data that can be organized sequentially (formally defined as Vector objects), as well as views on these Vector objects. Efficient list-like classes are also provided for storing big collections of instances of the basic classes. All classes in the package use consistent naming and share the same rich and consistent Vector API as much as possible.
Proper citation: IRanges (RRID:SCR_006420) Copy
http://www.broadinstitute.org/scientific-community/science/projects/viral-genomics/vicuna
A de novo assembly program targeting populations with high mutation rates.
Proper citation: VICUNA (RRID:SCR_006302) Copy
https://github.com/ding-lab/msisensor
A C++ software program for automatically detecting somatic and germline variants at microsatellite regions. It computes length distributions of microsatellites per site in paired tumor and normal sequence data, subsequently using these to statistically compare observed distributions in both samples.
Proper citation: MSIsensor (RRID:SCR_006418) Copy
http://www.clipz.unibas.ch/downloads/TSSer/index.php
A computational pipeline to analyze differential RNA sequencing (dRNA-seq) data to determine transcription start sites genome-wide.
Proper citation: TSSer (RRID:SCR_006419) Copy
https://bitbucket.org/wanding/duprecover/overview
Software that facilitates accurate estimation for sampling-induced read duplication in deep sequencing experiments.
Proper citation: DupRecover (RRID:SCR_006410) Copy
http://bioinf.wehi.edu.au/socrates/
Software for detecting genomic rearrangements in tumors that utilizes only split-read data. It features single nucleotide resolution, high sensitivity, and high specificity in simulated data. It takes advantage of parallelism for efficient use of resources.
Proper citation: Socrates (RRID:SCR_006411) Copy
Statistical software to estimate tumor purity, ploidy and absolute copy numbers from next generation sequencing data.
Proper citation: AbsCN-seq (RRID:SCR_006409) Copy
http://folk.uio.no/einarro/Projects/KFM-index/
Provides a compact storage of de Bruijn subgraphs representing the k-subwords of a set of strings.
Proper citation: kFM-index (RRID:SCR_006435) Copy
Public registry of antibodies with unique identifiers for commercial and non-commercial antibody reagents to give researchers a way to universally identify antibodies used in publications. The registry contains antibody product information organized according to genes, species, reagent types (antibodies, recombinant proteins, ELISA, siRNA, cDNA clones). Data is provided in many formats so that authors of biological papers, text mining tools and funding agencies can quickly and accurately identify the antibody reagents they and their colleagues used. The Antibody Registry allows any user to submit a new antibody or set of antibodies to the registry via a web form, or via a spreadsheet upload.
Proper citation: Antibody Registry (RRID:SCR_006397) Copy
http://hereditaryhearingloss.org/
Overview of the genetics of hereditary hearing impairment for researchers and clinicians. The site lists data and references for all known gene localizations and identifications for nonsyndromic hearing impairment, and several for syndromic hearing loss. For syndromic hearing impairment, only a few of the most frequent forms are covered. An atlas of cochlea with genes listed can be accessed from this site.
Proper citation: Hereditary Hearing Loss Homepage (RRID:SCR_006469) Copy
http://webdav.tuebingen.mpg.de/u/karsten/Forschung/research.html?page=research&topic=SV-M&html=text
Software for accurate indel prediction using paired-end short reads.
Proper citation: SV-M (RRID:SCR_006461) Copy
https://code.google.com/p/saap-rrbs/
Streamlined Analysis and Annotation Pipeline for reduced representation bisulfite sequencing.
Proper citation: SAAP-RRBS (RRID:SCR_006516) Copy
Public archive providing a comprehensive record of the world''''s nucleotide sequencing information, covering raw sequencing data, sequence assembly information and functional annotation. All submitted data, once public, will be exchanged with the NCBI and DDBJ as part of the INSDC data exchange agreement. The European Nucleotide Archive (ENA) captures and presents information relating to experimental workflows that are based around nucleotide sequencing. A typical workflow includes the isolation and preparation of material for sequencing, a run of a sequencing machine in which sequencing data are produced and a subsequent bioinformatic analysis pipeline. ENA records this information in a data model that covers input information (sample, experimental setup, machine configuration), output machine data (sequence traces, reads and quality scores) and interpreted information (assembly, mapping, functional annotation). Data arrive at ENA from a variety of sources including submissions of raw data, assembled sequences and annotation from small-scale sequencing efforts, data provision from the major European sequencing centers and routine and comprehensive exchange with their partners in the International Nucleotide Sequence Database Collaboration (INSDC). Provision of nucleotide sequence data to ENA or its INSDC partners has become a central and mandatory step in the dissemination of research findings to the scientific community. ENA works with publishers of scientific literature and funding bodies to ensure compliance with these principles and to provide optimal submission systems and data access tools that work seamlessly with the published literature. ENA is made up of a number of distinct databases that includes the EMBL Nucleotide Sequence Database (Embl-Bank), the newly established Sequence Read Archive (SRA) and the Trace Archive. The main tool for downloading ENA data is the ENA Browser, which is available through REST URLs for easy programmatic use. All ENA data are available through the ENA Browser. Note: EMBL Nucleotide Sequence Database (EMBL-Bank) is entirely included within this resource.
Proper citation: European Nucleotide Archive (ENA) (RRID:SCR_006515) Copy
http://www.niehs.nih.gov/research/resources/software/biostatistics/art/
A set of simulation tools to generate synthetic next-generation sequencing reads. ART simulates sequencing reads by mimicking real sequencing process with empirical error models or quality profiles summarized from large recalibrated sequencing data. ART can also simulate reads using user own read error model or quality profiles. ART supports simulation of single-end, paired-end/mate-pair reads of three major commercial next-generation sequencing platforms: Illumina''''s Solexa, Roche''''s 454 and Applied Biosystems'''' SOLiD. ART can be used to test or benchmark a variety of method or tools for next-generation sequencing data analysis, including read alignment, de novo assembly, SNP and structure variation discovery. ART is implemented in C++ with optimized algorithms and is highly efficient in read simulation. ART outputs reads in the FASTQ format, and alignments in the ALN format. ART can also generate alignments in the SAM alignment or UCSC BED file format.
Proper citation: ART (RRID:SCR_006538) Copy
http://archive.igbmc.fr/recherche/Prog_FGC/Eq_HGron/Bioinfotools/NGS/website/index.php
Computational-based software that infers quality indicators from the distribution of sequenced reads associated to a particular NGS profile. Such information is then used for comparative purposes and for defining strategies to improve the quality of sample-derived datasets.
Proper citation: NGS-QC Generator (RRID:SCR_006536) Copy
A public database that enhances understanding of the effects of environmental chemicals on human health. Integrated GO data and a GO browser add functionality to CTD by allowing users to understand biological functions, processes and cellular locations that are the targets of chemical exposures. CTD includes curated data describing cross-species chemical–gene/protein interactions, chemical–disease and gene–disease associations to illuminate molecular mechanisms underlying variable susceptibility and environmentally influenced diseases. These data will also provide insights into complex chemical–gene and protein interaction networks.
Proper citation: Comparative Toxicogenomics Database (CTD) (RRID:SCR_006530) Copy
http://sourceforge.net/projects/cohcap/
An algorithm to analyze single-nucleotide resolution methylation data (Illumina 450k methylation array, targeted BS-Seq, etc.). It provides QC metrics, differential methylation for CpG Sites, differential methylation for CpG Islands, integration with gene expression data, and visualization of methylation values.
Proper citation: COHCAP (RRID:SCR_006499) Copy
Database for genetic, genomic, phenotype, and disease data generated from rat research. Centralized database that collects, manages, and distributes data generated from rat genetic and genomic research and makes these data available to scientific community. Curation of mapped positions for quantitative trait loci, known mutations and other phenotypic data is provided. Facilitates investigators research efforts by providing tools to search, mine, and analyze this data. Strain reports include description of strain origin, disease, phenotype, genetics, immunology, behavior with links to related genes, QTLs, sub-strains, and strain sources.
Proper citation: Rat Genome Database (RGD) (RRID:SCR_006444) Copy
http://www.gigasciencejournal.com/
An online open-access open-data journal, publishing ''big-data'' studies from the entire spectrum of life and biomedical sciences whose publication format links standard manuscript publication with its affiliated database, GigaDB, that hosts all associated data, provides data analysis tools, cloud-computing resources, and a DOI assignment to every dataset. GigaScience covers not just ''omic'' type data and the fields of high-throughput biology currently serviced by large public repositories, but also the growing range of more difficult-to-access data, such as imaging, neuroscience, ecology, cohort data, systems biology and other new types of large-scale sharable data. Supporting the open-data movement, they require that all supporting data and source code be publicly available in a suitable public repository and/or under a public domain CC0 license in the BGI GigaScience database. Using the BGI cloud as a test environment, they also consider open-source software tools / methods for the analysis or handling of large-scale data. When submitting a manuscript, please contact them if you have datasets or cloud applications you would like them to host. To maximize data usability submitters are encouraged to follow best practice for metadata reporting and are given the opportunity to submit in ISA-Tab format.
Proper citation: GigaScience (RRID:SCR_006565) Copy
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