| PhenomeCentral |
phenomecentral.org |
(16) |
| DDD (Deciphering Developmental Disorders) |
www.ddduk.org |
(61,62) |
| DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) |
decipher.sanger.ac.uk |
(63) |
|
| ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations) |
http://umcecaruca01.extern.umcn.nl:8080/ecaruca/ecaruca.jsp |
(64) |
|
| The 100 000 Genomes Project |
https://www.genomicsengland.co.uk/ |
(65) |
| Geno2MP (Exome sequencing data linked to phenotypic information from a wide variety of Mendelian gene discovery projects) |
http://geno2mp.gs.washington.edu |
(21) |
|
| NIH UDP (Undiagnosed Diseases Program) |
available via phenomecentral.org
|
(66) |
| NIH UDN (Undiagnosed Diseases Network) |
available via phenomecentral.org
|
(16) |
| HDG (Human Disease Gene Website series) |
www.humandiseasegenes.com |
|
| Phenopolis (An open platform for harmonization and analysis of sequencing and phenotype data) |
https://phenopolis.github.io |
|
|
| GenomeConnect (Patient portal developed by ClinGen (67) |
www.genomeconnect.org |
(68) |
| FORGE Canada & Care4Rare Consortium |
available via phenomecentral.org
|
(69) |
| RD-Connect |
platform.rd-connect.eu |
(28) |
| Genesis |
thegenesisprojectfoundation.org |
|
