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http://www.nih.gov/

NIH is the nations medical research agency - making important medical discoveries that improve health and save lives. The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research. Helping to lead the way toward important medical discoveries that improve peoples health and save lives, NIH scientists investigate ways to prevent disease as well as the causes, treatments, and even cures for common and rare diseases. NIH research impacts: * child and teen health, * men's health, * minority health, * seniors' health, * women's health, and * wellness and lifestyle issues. Composed of 27 Institutes and Centers, the NIH provides leadership and financial support to researchers in every state and throughout the world.

Proper citation: National Institutes of Health (RRID:SCR_011417) Copy   

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http://www.genome.gov/Glossary/

Glossary of Genetic Terms to help everyone understand the terms and concepts used in genetic research. In addition to definitions, specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.

Proper citation: Talking Glossary of Genetic Terms (RRID:SCR_003215) Copy   

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http://research.nhgri.nih.gov/CGD/

Manually curated database of all conditions with known genetic causes, focusing on medically significant genetic data with available interventions. Includes gene symbol, conditions, allelic conditions, inheritance, age in which interventions are indicated, clinical categorization, and general description of interventions/rationale. Contents are intended to describe types of interventions that might be considered. Includes only single gene alterations and does not include genetic associations or susceptibility factors related to more complex diseases.

Proper citation: Clinical Genomic Database (RRID:SCR_006427) Copy   

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http://research.nhgri.nih.gov/histones/

Histone Database is a database of histones and their corresponding sequences. Sequence- and text-based searches were performed on NCBI's redundant and non-redundant (nr) peptide sequence databases. These databases are derived from GenBank, EMBL, and DDBJ translated DNA coding regions, plus protein sequences from the PDB (Protein Data Bank), SWISS-PROT, the PIR (Protein Information Resource), and the PRF (Protein Research Foundation). :Users can search by keyword, sequence fragment, category, organism, and redundancy of the set.

Proper citation: Histone Database (RRID:SCR_007711) Copy   

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http://www.ebi.ac.uk/gwas/

Catalog of published genome-wide association studies. Genome-wide set of genetic variants in different individuals to see if any variant is associated with trait and disease. Database of genome-wide association study (GWAS) publications including only those attempting to assay single nucleotide polymorphisms (SNPs). Publications are organized from most to least recent date of publication. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator). Works with HANCESTRO ancestry representation.

Proper citation: GWAS: Catalog of Published Genome-Wide Association Studies (RRID:SCR_012745) Copy   

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https://github.com/nhansen/Shimmer

Software package that detects somatic single-nucleotide variants using statistical hypothesis testing with multiple testing correction. It uses Fisher's exact test along with multiple testing correction (Benjamini-Hochberg) to find significant differences between allele composition with a specified false discovery rate.

Proper citation: Shimmer (RRID:SCR_001164) Copy   

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https://www.genome.gov/27550959/undiagnosed-diseases-network-udn/

A network of clinical sites and core laboratories to accelerate discovery and innovate the way medical professionals diagnose and treat patients with previously undiagnosed diseases. It will serve to test whether this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic medical centers. It also provides clinical training of contemporary genomic approaches in diagnosing disease.

Proper citation: Undiagnosed Diseases Network (RRID:SCR_014415) Copy   

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http://gmod.org/wiki/Main_Page

A collection of open source software tools for creating and managing genome-scale biological databases. GMOD is made up databases, applications, and adaptor software that connects these components together. You can use it to create a small laboratory database of genome annotations, or a large web-accessible community database. At first GMOD just featured model organisms but now any organism with any kind of sequence associated with it is a good candidate as a subject for a GMOD database. There are GMOD databases with just protein sequence in them, with EST sequence only, those that are concerned primarily with gene expression, and even those dedicated to collections of RNA sequence. They have also heard of GMOD databases for oligonucleotides and plasmids.

Proper citation: Generic Model Organism Database Project (RRID:SCR_001731) Copy   

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http://www.ncbi.nlm.nih.gov/SNP/

Database as central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms. Distinguishes report of how to assay SNP from use of that SNP with individuals and populations. This separation simplifies some issues of data representation. However, these initial reports describing how to assay SNP will often be accompanied by SNP experiments measuring allele occurrence in individuals and populations. Community can contribute to this resource.

Proper citation: dbSNP (RRID:SCR_002338) Copy   

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http://elementsofmorphology.nih.gov/

Data set of standardized terms used to describe human morphology including definitions of terms for the craniofacies in general, the major components of the face, and the hands and feet. This provides a uniform and internationally accepted terms to describe the human phenotype.

Proper citation: elements of morphology (RRID:SCR_003707) Copy   

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http://research.nhgri.nih.gov/homeodomain/

The Homeodomain Resource is a curated collection of sequence, structure, interaction, genomic, and functional information on the homeodomain family. A description of each of the major sections of the database can be found below, and users can navigate through the site using the links found in the menu that appears on the left-hand side of every page within the site. The website provides lists of Homeodomain proteins, solved three-dimensional structures of homeodomain proteins and protein-DNA complexes, lists of protein-protein interactions involving homeodomain proteins, DNA binding sites, and human genetic and genomic disorders linked to homeodomain proteins. Preexisting Description: homeodomain, protein, protein-DNA complex,

Proper citation: Homeodomain Resource (RRID:SCR_013081) Copy   

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http://research.nhgri.nih.gov/bic/

When the BRCA1 gene was cloned, a Steering Committee was initiated to help coordinate the formation of a Breast Cancer Information Core (BIC) that could act as such a central repository. NHGRI has chosen as the most accessible format for the BIC this World Wide Web site. The recent identification of mutations in breast cancer susceptibility genes has provided the exciting opportunity to help identify women who are at high risk to develop breast cancer. One of the serious impediments to achieving clinical benefits from this information however, is finding and assessing the significance of mutations in these new susceptibility genes. It is imperative that the detection and interpretation of these mutations is coordinated and that this information is made available to as many qualified investigators as possible. There are many sites on the web that contain general as well as scientific information relevant to breast cancer. A partial list of these can be found here. Having participated in the poorly coordinated analysis of other cancer susceptibility genes, we consider it important to create and maintain a central repository for information regarding mutations and polymorphisms. NHGRI also think it critical to make available the reagents necessary to carry out many different techniques for the detection of such mutations. Sponsors: This resource is supported by the National Human Genome Research Institute (NHGRI). Keywords: Breast, Cancer, Mutation, Clincial, Polymorphism, Gene, Scientific,

Proper citation: An Open Access On-Line Breast Cancer Mutation Data Base (RRID:SCR_008432) Copy   

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http://research.nhgri.nih.gov/skippy/index.shtml

A Web-based tool that allows users to input a set of exonic variants to score them for a number of features (such as changes in splicing regulatory elements) that have been shown to be predictive of known genome variations that cause exon skipping or activation of ectopic splice sites. In this way, variants can be either prioritized for further splicing-based functional analysis or the results can be used as further genomic evidence in cases in which the causative variant is already known.

Proper citation: SKIPPY (RRID:SCR_005430) Copy   

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http://www.1000genomes.org/

International collaboration producing an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts, in an effort to provide a foundation for investigating the relationship between genotype and phenotype. The genomes of about 2500 unidentified people from about 25 populations around the world were sequenced using next-generation sequencing technologies. Redundant sequencing on various platforms and by different groups of scientists of the same samples can be compared. The results of the study are freely and publicly accessible to researchers worldwide. The consortium identified the following populations whose DNA will be sequenced: Yoruba in Ibadan, Nigeria; Japanese in Tokyo; Chinese in Beijing; Utah residents with ancestry from northern and western Europe; Luhya in Webuye, Kenya; Maasai in Kinyawa, Kenya; Toscani in Italy; Gujarati Indians in Houston; Chinese in metropolitan Denver; people of Mexican ancestry in Los Angeles; and people of African ancestry in the southwestern United States. The goal Project is to find most genetic variants that have frequencies of at least 1% in the populations studied. Sequencing is still too expensive to deeply sequence the many samples being studied for this project. However, any particular region of the genome generally contains a limited number of haplotypes. Data can be combined across many samples to allow efficient detection of most of the variants in a region. The Project currently plans to sequence each sample to about 4X coverage; at this depth sequencing cannot provide the complete genotype of each sample, but should allow the detection of most variants with frequencies as low as 1%. Combining the data from 2500 samples should allow highly accurate estimation (imputation) of the variants and genotypes for each sample that were not seen directly by the light sequencing. All samples from the 1000 genomes are available as lymphoblastoid cell lines (LCLs) and LCL derived DNA from the Coriell Cell Repository as part of the NHGRI Catalog. The sequence and alignment data generated by the 1000genomes project is made available as quickly as possible via their mirrored ftp sites. ftp://ftp.1000genomes.ebi.ac.uk ftp://ftp-trace.ncbi.nlm.nih.gov/1000genomes

Proper citation: 1000 Genomes: A Deep Catalog of Human Genetic Variation (RRID:SCR_006828) Copy   

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