Cite Enigma Clinical
The platform, its pages and the data sources it shows
How to cite Enigma Clinical
If Enigma Clinical contributed to your work, please cite it. A peer-reviewed description of the platform has not been published yet; until it is, cite the data release as an online resource and give the date you accessed it, as below.
BibTeX (@misc / @article)
BibTeX@misc{enigmaclinical_v1_1970,
author = {{Enigma Genomics}},
title = {{Enigma Clinical Platform (Enigma Clinical), Release v1 [Data set]}},
year = {1970},
version = {v1},
howpublished = {\url{https://clinical.enigmagenomics.com}},
url = {https://clinical.enigmagenomics.com},
urldate = {1970-01-01},
note = {Accessed 1 January 1970}
}Citing a variant, gene or region
Page addresses use canonical identifiers, so a link stays valid. Frequencies and annotations can change between data releases, and classifications from live sources such as ClinVar can change at any time; give the release and the date you looked, as in this example.
Suggested acknowledgement
For methods or acknowledgement sections, this sentence credits the platform and meets gnomAD’s attribution requirement. Cite the original resources below for any values you report from them.
This work used data from the Enigma Clinical Platform (Enigma Clinical), Saudi cohort release v1 (https://clinical.enigmagenomics.com). Population frequencies from the Genome Aggregation Database (gnomAD) are made available under the Open Database License (ODbL).
Data sources
Enigma Clinical shows data from the resources below, each under its provider’s terms. When you report a value that comes from one of them, please cite that resource as its provider asks.
| Source | Category | Used in Enigma Clinical for | Licence | Please cite |
|---|---|---|---|---|
| gnomAD(opens in a new tab) | Population frequencies | Global and genetic-ancestry-group allele frequencies, gene constraint, gene and transcript models, structural variants and short tandem repeats | ODbL 1.0(opens in a new tab) Public use must be attributed and the Genome Aggregation Database Consortium acknowledged; databases derived from gnomAD stay open under the ODbL. |
|
| STRchive(opens in a new tab) | Population frequencies | Repeat-expansion loci: normal, intermediate and pathogenic ranges and associated diseases | CC BY 4.0(opens in a new tab) Attribution required. |
|
| ClinVar(opens in a new tab) | Clinical interpretation | Germline and somatic classifications, review status and submissions, read live from NCBI |
| |
| dbSNP and NCBI Variation Services(opens in a new tab) | Normalisation and annotation | rsIDs, SPDI and HGVS conversion to GRCh38 variants |
| |
| ClinGen(opens in a new tab) | Clinical interpretation | Gene–disease validity, dosage sensitivity, expert-panel specifications and the Allele Registry | CC0 1.0(opens in a new tab) Attribution requested whenever possible. |
|
OMIM, OncoKB, COSMIC, VarSome, REVEL, CADD, PolyPhen-2, SpliceAI are linked to from Enigma Clinical pages, but their content is shown only where a deployment holds a licence that allows it.