Bases de données

Attention

Liste absolument non exhaustive. Corrections à venir

Association phénotypes / gènes

• The Human Phenotype Ontology
• PhenomeCentral is a repository for clinicians and scientists working in the rare disorder community

Association gènes / maladies

• Online Mendelian Inheritance in Man (OMIM)
• Orphanet

Association panels (listes de gènes) / maladies

• Genomics England PanelApp

Standardisation du nom des gènes

• Home | HUGO Gene Nomenclature Committee (example)
• CCDS Report for Consensus CDS (NCBI, Ensembl/Havana, UCSC)

MANE (Matched Annotation between NCBI and EBI)

• MANE (Matched Annotation between NCBI and EBI)
• Matched Annotation from NCBI and EMBL-EBI (MANE)

Annotation de séquences nucléotidique

• RefSeq: NCBI Reference Sequence Database
• gnomAD : genome aggregation database

Association variations / phénotypes

• ClinVar

Annotations de variations

• Locus Reference Genomic: LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.

Génomes

• GRCh38.p13 Genome Reference Consortium Human Build 38 patch release 13

Association variations / thérapeutiques

• Cancer Genome Interpreter - Identification of therapeutically actionable genomic alterations in tumors

À classer

• MyVariant.info | Variant Annotation as a Service.
• PhenoTips is the world’s first Genomic Health Record™
• COSMIC - Catalogue of Somatic Mutations in Cancer
• InterPro (example)
• WebGestalt (WEB-based GEne SeT AnaLysis Toolkit)

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Last update: October 4, 2023