Enllaços

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#1

Gens

gnomAD

Epigenètica

Cell-free epigenome atlas

Cebadors

Exomes

Oligogenic inheritance

Proteïnes

The Human Protein Atlas

NGS

Microarrays

Linkage Disequilibrium

GWAS

Pathways

Software Repositories

Program in Complex Trait Genomics

EMBL Bioinfo Tools

SNP-tools

Repositori de Seqüències

Nanopore

#2

Malalties

Muts. Alzhèimer

Muts. Pàrkinson

Muts. ELA

Altres mutacions

Malalties minoritàries

Orphanet

RD-Connect

EJP Rare Diseases

European Rare Disease Registry Infrastructure (ERDRI)

Rare Disease Cohorts Programme (RaDiCo)

Ontologies

International Classification of Diseases (ICD)

Online Mendelian Inheritance in Man (OMIM)

Orphanet Rare Disease Ontology (ORDO)

Monarch Disease Ontology (MONDO)

Human Phenotype Ontology (HPO)

SNOMED CT

Experimental Factor Ontology (EFO)

Data Use Ontology (DUO)

Logical Observation Identifiers Names and Codes (LOINC)

Minimum Information About BIobank data Sharing (MIABIS)

Ontology for Biobanking (OBIB)

Research Infraestr

BBMRI-ERIC Directory of Biobanks
BBMRI-ERIC Negotiator
RD-Connect Sample Catalogue
RD-Connect Registry and Biobank Finder
EuroBioBank
Orphanet / Orphadata
ELIXIR bio.tools
ELIXIR European Genome-Phenome Archive (EGA)
INFRAFRONTIER
EATRIS
ECRIN

Ús Dades

Orphanet nomenclature (ORPHAcodes) and ORDO
Human Phenotype Ontology (HPO)
RD-Connect Genome-Phenome Analysis Platform
PhenoMeNal
neXtprotKB
DECIPHER
European Patient Identifty Services (EUPID)

Dades:Deposició

MetaboLights

PRoteome IDEntifications

Models cel·lulars

Bioinfo