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http://www.broadinstitute.org/mmgp/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 6, 2023. Database providing access and limited analysis to the MMGP portal data sets. These include the MMRC funded reference array comparative genomic hybridization (aCGH) and gene expression data and additional public multiple myeloma datasets. The MMGP will be updated with new features such as additional data and analysis tools as they become available.

Proper citation: Multiple Myeloma Genomics Portal (RRID:SCR_003722) Copy   

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http://www.broadinstitute.org/mpg/ricopili/

Ricopili is a tool for visualizing regions of interest in select GWAS data sets. How it works Choose a data set and enter a genomic location or a gene name in the form below. A .pdf plot will be generated, as well as a text file with single SNP results. You can also specify the following options: * Clumping: Independent regions will be colored differently, to highlight LD. If you request more than one clump, be sure to have at least one SNP passing the specified p-value-threshold (for performance reasons.) * SNP: SNPs in the region are colored by LD to this index SNP. * Anonymity: Frequency information is from HapMap to protect anonymity. * NHGRI results: Results from the NHGRI GWAS catalog will be included in the plot. Finally, please note that this tool is in development (it was released on September 19th, 2011) and should be considered beta. In particular, our development server is not equipped for high traffic. If the server fails to respond to your request, please try again at a later time.

Proper citation: Ricopili (RRID:SCR_004496) Copy   

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http://genomespace.org

Interoperability framework which supports integrative genomics analysis via access to various bioinformatics tools. Rather than performing analyses itself, GenomeSpace acts as a hub for data from supported bioinformatics tools and reformats data and results when necessary.

Proper citation: GenomeSpace (RRID:SCR_014967) Copy   

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https://github.com/broadinstitute/ichorCNA

Software tool that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. Used to simultaneously segment genome, predict large scale copy number alterations, and estimate tumor fraction of ultra low pass whole genome sequencing sample.

Proper citation: ichorCNA (RRID:SCR_024768) Copy   

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https://cellarium.ai

Software platform to annotate cell types.

Proper citation: Cellarium (RRID:SCR_025438) Copy   

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http://firebrowse.org/

Portal provides access to cancer genomic data from variety of analyses: clinical, copy number, miR, miRseq, mRNA, mRNAseq, mutation and pathway analyses. Provides comprehensive suite of interdependent analyses of those data, including: correlations, clustering, and GISTIC and MutSigCV. Companion portal to the Broad Institute GDAC Firehose analysis pipeline, and was developed to cull and analyze data generated by The Cancer Genome Atlas (TCGA), which characterizes and identifies genomic patterns in human cancer models.

Proper citation: FireBrowse (RRID:SCR_026320) Copy   

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https://github.com/broadinstitute/multiVIB

Software tool as comprehensive framework for integration of single-cell omics data with probabilistic contrastive learning.

Proper citation: multiVIB (RRID:SCR_027589) Copy   

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https://www.broadinstitute.org/genomics

Facility that generates, analyzes, and interprets high-throughput genomic data to understand the genetic basis of disease. Genomics Platform has played leadership role in the design, data generation, and methods development in support of major genomic resource projects.Through the Broad Clinical Labs (BCL), formerly known as the Clinical Research Sequencing Platform (CRSP), it supports clinical trials, diagnostic testing, and major initiatives, including COVID-19 testing. Offers services including Nucleic Acid Extractions, Single Cell Sequencing (using 10x Genomics products), and GWAS Arrays.

Proper citation: Broad Institute Genomics Platform (RRID:SCR_027987) Copy   

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https://gatk.broadinstitute.org/hc/en-us/articles/360036350452-VariantFiltration

Software command-line tool designed for hard-filtering variant callsets (VCF files) by applying user-defined criteria to annotate, rather than remove, low-quality variants. It marks fails in the FILTER field (e.g., using JEXL expressions to filter by DP, QD, or FS), making it essential for filtering small datasets, non-model organisms, or whenever Variant Quality Score Recalibration (VQSR) is not feasible

Proper citation: GATK VariantFiltration (RRID:SCR_028441) Copy   

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http://www.broadinstitute.org/scientific-community/science/programs/medical-and-population-genetics/haploview/haploview

A Java based software tool designed to simplify and expedite the process of haplotype analysis by providing a common interface to several tasks relating to such analyses. Haploview currently allows users to examine block structures, generate haplotypes in these blocks, run association tests, and save the data in a number of formats. All functionalities are highly customizable. (entry from Genetic Analysis Software) * LD & haplotype block analysis * haplotype population frequency estimation * single SNP and haplotype association tests * permutation testing for association significance * implementation of Paul de Bakker's Tagger tag SNP selection algorithm. * automatic download of phased genotype data from HapMap * visualization and plotting of PLINK whole genome association results including advanced filtering options Haploview is fully compatible with data dumps from the HapMap project and the Perlegen Genotype Browser. It can analyze thousands of SNPs (tens of thousands in command line mode) in thousands of individuals. Note: Haploview is currently on a development and support freeze. The team is currently looking at a variety of options in order to provide support for the software. Haploview is an open source project hosted by SourceForge. The source can be downloaded at the SourceForge project site.

Proper citation: Haploview (RRID:SCR_003076) Copy   

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http://www.diabetesgenome.org

Produce resources to unravel the interface between insulin action, insulin resistance and the genetics of type 2 diabetes including an annotated public database, standardized protocols for gene expression and proteomic analysis, and ultimately diabetes-specific and insulin action-specific DNA chips for investigators in the field. The project aims to identify the sets of the genes involved in insulin action and the predisposition to type 2 diabetes, as well as the secondary changes in gene expression that occur in response to the metabolic abnormalities present in diabetes. There are five major and one pilot project involving human and rodent tissues that are designed to: * Create a database of the genes expressed in insulin-responsive tissues, as well as accessible tissues, that are regulated by insulin, insulin resistance and diabetes. * Assess levels and patterns of gene expression in each tissue before and after insulin stimulation in normal and genetically-modified rodents; normal, insulin resistant and diabetic humans, and in cultured and freshly isolated cell models. * Correlate the level and patterns of expression at the mRNA and/or protein level with the genetic and metabolic phenotype of the animal or cell. * Generate genomic sequence from a panel of humans with type 2 diabetes focusing on the genes most highly regulated by insulin and diabetes to determine the range of sequence and expression variation in these genes and the proteins they encode, which might affect the risk of diabetes or insulin resistance. The DGAP project will define: * the normal anatomy of gene expression, i.e. basal levels of expression and response to insulin. * the morbid anatomy of gene expression, i.e., the impact of diabetes on expression patterns and the insulin response. * the extent to which genetic variability might contribute to the alterations in expression or to diabetes itself.

Proper citation: DGAP (RRID:SCR_003036) Copy   

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http://www.broadinstitute.org/gsea/

Software package for interpreting gene expression data. Used for interpretation of a large-scale experiment by identifying pathways and processes.

Proper citation: Gene Set Enrichment Analysis (RRID:SCR_003199) Copy   

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http://genecruiser.broadinstitute.org/genecruiser3/

A web service and web application for the annotation of microarray data providing integrated access to genomic information freely available from public data sources.

Proper citation: GeneCruiser (RRID:SCR_003153) Copy   

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http://www.broad.mit.edu/mammals/dog

The genome of the domesticated dog, a close evolutionary relation to human, is a powerful new tool for understanding the human genome. Comparison of the dog with human and other mammals reveals key information about the structure and evolution of genes and genomes. The unique breeding history of dogs, with their extraordinary behavioral and physical diversity, offers the opportunity to find important genes underlying diseases shared between dogs and humans, such as cancer, diabetes, and epilepsy. The Canine Genome Sequencing Project produced a high-quality draft sequence of a female boxer named Tasha. By comparing Tasha with many other breeds, the project also compiled a comprehensive set of SNPs (single nucleotide polymorphisms) useful in all dog breeds. These closely spaced genomic landmarks are critical for disease mapping. By comparing the dog, rodent, and human lineages, researchers at the Broad Institute uncovered exciting new information about human genes, their evolution, and the regulatory mechanisms governing their expression. Using SNPs, researchers describe the strikingly different haplotype structure in dog breeds compared with the entire dog population. In addition, they show that by understanding the patterns of variation in dog breeds, scientists can design powerful gene mapping experiments for complex diseases that are difficult to map in human populations. Contribute Although the astounding generosity of Eli and Edythe L. Broad and several other venture philanthropists empowers our scientists to tackle many of the most important problems at the cutting edge of genomic medicine, there are many other critical challenges that they cannot yet pursue because of limited resources. We need additional visionary partners to join the Broads and the Broad Institute in transforming medicine with the power of genomics.

Proper citation: Dog Genome Project (RRID:SCR_008486) Copy   

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http://www.broad.mit.edu/diabetes/

The Diabetes Genetics Initiative is a collaboration of the Broad Institute of MIT and Harvard, Lund University, and Novartis Institutes for BioMedical Research The Diabetes Genetics Initiative combines the resources and expertise of the Novartis Institutes for BioMedical Research, the Broad Institute of MIT and Harvard, and Lund University to identify the genetic determinants of type 2 diabetes. This unique collaboration aims to collect and analyze samples from type 2 diabetic patients from nations across the globe, performing whole genome scans to provide a comprehensive view of the DNA sequence variants associated with the disease. This partnership has been forged with the explicit goal of making this vast amount of crucial data available to researchers globally and free of cost, which should lead to a greater understanding of disease biology and speed the development of more effective therapies. Contribute Although the astounding generosity of Eli and Edythe L. Broad and several other venture philanthropists empowers our scientists to tackle many of the most important problems at the cutting edge of genomic medicine, there are many other critical challenges that they cannot yet pursue because of limited resources. We need additional visionary partners to join the Broads and the Broad Institute in transforming medicine with the power of genomics.

Proper citation: Diabetes Genetics Initiative (RRID:SCR_008478) Copy   

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http://www.broad.mit.edu/cancer/software/genecluster2/gc2.html

THIS RESOURCE IS NO LONGER IN SERVICE, documented on July 17, 2013. A software package for analyzing gene expression and other bioarray data, giving users a variety of methods to build and evaluate class predictors, visualize marker lists, cluster data and validate results. GeneCluster 2.0 greatly expands the data analysis capabilities of GeneCluster 1.0 by adding supervised classification, gene selection, class discovery and permutation test methods. It includes algorithms for building and testing supervised models using weighted voting (WV) and k-nearest neighbor (KNN) algorithms, a module for systematically finding and evaluating clustering via self-organizing maps, and modules for marker gene selection and heat map visualization that allow users to view and sort samples and genes by many criteria. It enhances the clustering capabilities of GeneCluster 1.0 by adding a module for batch SOM clustering, and also includes a marker gene finder based on a KNN analysis and a visualization module. GeneCluster 2.0 is a stand-alone Java application and runs on any platform that supports the Java Runtime Environment version 1.3.1 or greater.

Proper citation: GeneCluster 2: An Advanced Toolset for Bioarray Analysis (RRID:SCR_008446) Copy   

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http://www.broad.mit.edu/node/305

The Connectivity Map aims to generate a detailed map that links gene patterns associated with disease to corresponding patterns produced by drug candidates and a variety of genetic manipulations. The Connectivity Map is the most comprehensive effort yet for using genomics in a drug-discovery framework. It allows researchers to screen compounds against genome-wide disease signatures, rather than a pre-selected set of target genes. Drugs are paired with diseases using sophisticated pattern-matching methods with a high level of resolution and specificity. To build a Connectivity Map, the Broad Institute brings together molecular biologists, genomics specialists, computational scientists, pharmacologists, chemists and chemical biologists, as well as expertise from across the breadth and depth of medicine.Connectivity map is a large public database of signatures of drugs and genes, and pattern-matching tools to detect similarities among these signatures.The parent site for the Broad Institute at MIT has a software library of software applications developed for use in genetic analysis.

Proper citation: National Institute of Mental Health (NIMH) Human Genetics Initiative (RRID:SCR_007436) Copy   

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http://www.broadinstitute.org/cancer/cga/rna-seqc

Java software which computes a series of quality control metrics for RNA-seq data and can compare sequencing quality across different samples or experiments to evaluate different experimental parameters. The input can be one or more BAM files, and the output consists of HTML reports and tab delimited files of metrics data.

Proper citation: RNA-SeQC (RRID:SCR_005120) Copy   

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http://www.broadinstitute.org/software/pathseq/

A computational tool for the identification and analysis of microbial sequences in high-throughput human sequencing data that is designed to work with large numbers of sequencing reads in a scalable manner. This process is composed of a subtractive phase in which input reads are subtracted by alignment to human reference sequences, and an analytic phase in which the remaining reads are aligned to microbial reference sequences (viral, fungal, bacterial, archaeal) and de novo assembled. PathSeq is currently available in a cloud computing environment via Amazon Web Services The typical approach one would take to pathogen discovery with PathSeq: RNA or DNA is extracted from the tissue of interest and sequencing libraries are constructed to be run on the next-generation DNA sequencing platform of choice. The resulting sequence data is run through the PathSeq pipeline in a cloud computing environment. PathSeq reports potential microbes in the sequence data as well as the complete set of reads that could not be identified as human or microbial sequences.

Proper citation: PathSeq (RRID:SCR_005203) Copy   

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http://www.broadinstitute.org/gatk/gatkdocs/org_broadinstitute_sting_gatk_walkers_indels_SomaticIndelDetector.html

Tool for calling indels in Tumor-Normal paired sample mode.

Proper citation: SomaticIndelDetector (RRID:SCR_005107) Copy   

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