Table 1: List of resources that can be used to prioritize candidate genes.
Resource | Functional Description | URL |
---|---|---|
MGI (Mouse Genome Informatics) |
MGI is the international database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data to facilitate the study of human health and disease. |
http://www.informatics.jax.org |
Gene Ontology (GO) Consortium |
The GO Consortium develops up-to-date, comprehensive, computational models of biological systems, from the molecular level to larger pathways, cellular and organism-level systems. |
Homepage: http://geneontology.org/ Descriptors: http://geneontology.org/page/ontology-documentation http://geneontology.org/page/development |
AmiGO2 | Searchable interface of GO Consortium | http://amigo.geneontology.org/amigo/landing |
DAVID (Database for Annotation, Visualization and Integrated Discovery) |
DAVID is a comprehensive set of functional annotation tools for investigators to understand biological meaning behind arge list of genes. |
https://david.ncifcrf.gov/ |
GSEA (Gene Set Enrichment Analysis) |
GSEA is a computational tool that determines whether an set of genes shows statistically significant, concordant differences between two biological states. |
http://software.broadinstitute.org/gsea/index.jsp |
Entrez Gene |
Gene provides a record including nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations,phenotypes, and links to genome-, phenotype-, and locus-specific resources. |
https://www.ncbi.nlm.nih.gov/gene/ |
ENSEMBL | Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. |
http://useast.ensembl.org/index.html |
UniProt | UniProt is a comprehensive, high-quality and freely accessible resource of protein sequence and functional information |
http://www.uniprot.org/ |
TRANSFAC | TRANSFARC houses data on eukaryotic transcription factors, their experimentally-proven binding sites, consensus binding sequences (positional weight matrices) and regulated genes. |
http://www.gene-regulation.com/pub/databases.html (last updated 2005) |
EMBL-EBI Gene Expression Atlas (GEA) |
Gene expression data displayed in this resource is re-analyzed in-house to detect genes showing interesting baseline and differential expression patterns in different cell types and organs, in addition to different developmental stages, disease states and biological/experimental conditions |
https://www.ebi.ac.uk/gxa/home |
Online Mendelian Inheritance in Man (OMIM) |
OMIM is a comprehensive online collection of records on human disease genes and genetic phenotypes. |
https://omim.org/ |
UK10K Project | UK10K is an example of one of the many smaller efforts to understand the link between low-frequency and rare genetic changes, and human disease |
http://www.uk10k.org |
Human Gene Mutation Database (HGMD, from Cardiff University) |
HGMD is a collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. -HGMD Cardiff: unlicensed and limited access (no access to mutations identified in the last 2.5 years) -HGMD Professional: licensed through Qiagen and complete access to entire collection |
http://www.hgmd.cf.ac.uk/ac/index.php |
Human Gene Mutation Database (HGMD) Professional |
https://www.qiagenbioinformatics.com/products/human-gene-mutation-database/ | |
IKMC (International Knockout Mouse Consortium) IMPC (International Mouse Phenotyping Consortium) IMSR (International Mouse Strain Resource) |
-IKMC generates targeted ES-cells of all known protein coding mouse genes and companion Cre driver lines - IMPC generates the mouse strains and perform standardized phenotyping. - All gene trap alleles are housed at Jax (Jackson Laboratories) - ISMR is a searchable catalogue of over 2000 strains |
IKMC: access through IKMC/IMPC hub IMPC: www.knockoutmouse.org IKMC/IMPC web portals were merged to create a central hub: http://www.mousephenotype.org Jax: https://www.jax.org IMSR: www.findmice.org; |
DMDD (Deciphering the Mechanisms of Developmental Disorders) |
Results from the Consortium to study knock-out lines where embryonic development is compromised. |
https://dmdd.org.uk |
HGNC (HUGO Gene Nomenclature Committee) Multi-Symbol Checker |
This tool to check submitted gene names in a list against HUGO verified names and their known synonyms, |
http://www.genenames.org/cgi-bin/symbol_checker |