DatabasE of genomiC varIation and Phenotype in Humans

Provided by DATABASE OF GENOMIC VARIATION AND PHENOTYPE IN HUMANS USING ENSEMBL RESOURCES (DECIPHER)

Decipher

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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Data resources and analysis tools to support life science research

Provided by EUROPEAN BIOINFORMATICS INSTITUTE (EBI)

EMBL EBI

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
Expression
Protein sequences
Molecular & cellular structures
Chemical biology
Pathways & systems

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Life science Data Platfrom

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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Leiden Open Variation Database

Provided by LEIDEN OPEN (SOURCE) VARIATION DATABASE (LOVD)

LOVD

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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Orphanet knowledge base

Provided by ORPHADATA

Orphadata

Orphadata provides the scientific community with comprehensive, massive, re-usable and computable quality data sets related to rare diseases from the Orphanet knowledge base, available through 4 distinct services:
* Files: Provided files are a partial extraction of the Orphanet knowledge base.
* APIs
* Customizable services
* Fair Datapoint

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