DECIPHER data repositories (access/management/deposition) services


DECIPHER is a clinical and research tool used by the clinical community to share and compare phenotypic and genotypic data and to
1. Aid in the interpretation of data from genome-wide analyses e.g. the differentiation between pathogenic and benign genomic variants.
2. Utilise the human reference sequence via Ensembl and other genome browsers to define which genes are involved in a specific structural variant (e.g. copy number variant) and for smaller variants (e.g. sequence variants), whether they are positioned within a gene or regulatory element and predict their likely consequence.
3. Facilitate research into the study of genes that affect human health and development to define new gene-disease and variant-disease associations and to improve diagnosis, management and therapy of rare diseases.

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EBI data repositories (access/management/deposition) services


EBI makes the world’s public biological data freely available to the scientific community via a range of services and tools and helps scientists everywhere turn information into knowledge in the following areas:
Genes, genomes & variation
Protein sequences
Molecular & cellular structures
Chemical biology
Pathways & systems

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ELIXIR data repositories (access/management/deposition) services

Provided by ELIXIR

The goal of the ELIXIR Data Platform is to drive the use, re-use and value of life science data. It aims to do this by providing users with robust, long-term sustainable data resources within a coordinated, scalable and connected data ecosystem. Bioinformaticians and life science researchers in both academic and industrial settings need confidence in the sound governance, life cycle management, and long-term sustainability of those data resources.
Platform highlights
ELIXIR Core Data Resources: European data resources that are of fundamental importance to research in the life sciences and are committed to the long-term preservation of data.
ELIXIR Deposition Databases: repositories recommended for the deposition of life sciences experimental data.
Data resource services: this list is updated as Nodes finalise or review their Service Delivery Plans

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SOURCE data repositories (access/management/deposition) services


LOVD is a free, flexible web-based open source database designed to collect and display variants in the DNA sequence. LOVD offers free hosting and support of LOVD-powered gene variant databases

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ORPHADATA data repositories (access/management/deposition) services

Provided by ORPHADATA

Orphanet offers a range of freely accessible services:
(1) an inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications;
(2) an encyclopaedia of rare diseases in English and French, progressively translated into Dutch, German, Italian, Spanish, Polish, Portuguese, and Czech;
(3) an inventory of orphan drugs at all stages of development;
Orphanet datasets are available for research purposes at Orphadata provides the scientific community with comprehensive, quality data sets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats. Orphanet produces ORDO, the Orphanet Rare Diseases Ontology, and HOOM, the HPO-ORDO Ontological Module. Orphadata, part of the French node of ELIXIR, is an Elixir Core Data Resource. Orphanet and ORDO are IRDIRC Recognized Resources.

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