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Found 8 result(s)

NCBI dbGaP

DataBase of Genotypes And Phenotypes

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The NCBI database of Genotypes and Phenotypes archives and distributes the results of studies that have investigated the interaction of genotype and phenotype, including genome-wide association studies, medical sequencing, molecular diagnostic assays, and association between genotype and non-clinical traits. The database provides summaries of studies, the contents of measured variables, and original study document text. dbGaP provides two types of access for users, open and controlled. Through the controlled access, users may access individual-level data such as phenotypic data tables and genotypes.

Estonian Biocentre Free Data

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A small genotype data repository containing data used in recent papers from the Estonian Biocentre. Most of the data pertains to human population genetics. PDF files of the papers are also freely available.

Japanese Genotype-phenotype Archive

JGA

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The Japanese Genotype-phenotype Archive (JGA) is a service for permanent archiving and sharing of all types of individual-level genetic and de-identified phenotypic data resulting from biomedical research projects. The JGA contains exclusive data collected from individuals whose consent agreements authorize data release only for specific research use or to bona fide researchers. Strict protocols govern how information is managed, stored and distributed by the JGA. Once processed, all data are encrypted. Users can contact the JGA team from here. JGA services are provided in collaboration with National Bioscience Database Center (NBDC) of Japan Science and Technology Agency.

DisGeNET

A knowledge base for disease genomics

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DisGeNET is a discovery platform containing one of the largest publicly available collections of genes and variants associated to human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models and the scientific literature. DisGeNET data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype–phenotype relationships.

Cystic Fibrosis Mutation Database

CFTR1

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The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.

The European Genome-phenome Archive

EGA

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The European Genome-phenome Archive (EGA) is designed to be a repository for all types of sequence and genotype experiments, including case-control, population, and family studies. We will include SNP and CNV genotypes from array based methods and genotyping done with re-sequencing methods. The EGA will serve as a permanent archive that will archive several levels of data including the raw data (which could, for example, be re-analysed in the future by other algorithms) as well as the genotype calls provided by the submitters. We are developing data mining and access tools for the database. For controlled access data, the EGA will provide the necessary security required to control access, and maintain patient confidentiality, while providing access to those researchers and clinicians authorised to view the data. In all cases, data access decisions will be made by the appropriate data access-granting organisation (DAO) and not by the EGA. The DAO will normally be the same organisation that approved and monitored the initial study protocol or a designate of this approving organisation. The European Genome-phenome Archive (EGA) allows you to explore datasets from genomic studies, provided by a range of data providers. Access to datasets must be approved by the specified Data Access Committee (DAC).

FaceBase

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FaceBase is a collaborative NIDCR-funded project that houses comprehensive data in support of advancing research into craniofacial development and malformation. It serves as a community resource by curating large datasets of a variety of types from the craniofacial research community and sharing them via this website. Practices emphasize a comprehensive and multidisciplinary approach to understanding the developmental processes that create the face. The data offered spotlights high-throughput genetic, molecular, biological, imaging and computational techniques. One of the missions of this project is to facilitate cooperation and collaboration between the central coordinating center (ie, the Hub) and the craniofacial research community.

Allele Frequency Net Database

AFND

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The Allele Frequency Net Database (AFND) is a public database which contains frequency information of several immune genes such as Human Leukocyte Antigens (HLA), Killer-cell Immunoglobulin-like Receptors (KIR), Major histocompatibility complex class I chain-related (MIC) genes, and a number of cytokine gene polymorphisms. The Allele Frequency Net Database (AFND) provides a central source, freely available to all, for the storage of allele frequencies from different polymorphic areas in the Human Genome. Users can contribute the results of their work into one common database and can perform database searches on information already available. We have currently collected data in allele, haplotype and genotype format. However, the success of this website will depend on you to contribute your data.