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Enigma ClinicalPlatform

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Enigma ClinicalPlatform

Genomic evidence for variant interpretation and discovery.

Enigma Clinical v1 · GRCh38

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Resources

Rare diseases
Clinical trials
Carrier screening panel
Example searches
Batch variant search
Liftover (hg38 / b37 / hg19)
My panels and saved searches
Cohort insights
Homozygous LoF registry
ClinVar discordance alerts
Founder variant registry
Germline classification
Somatic classification
SV implementation
Data sources
Cite the platform
API for developers
About

Contact

sgp-support@enigmagenomics.com
sgp-data@enigmagenomics.com
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Data sources

gnomAD v4
ClinVar
GENCODE / Ensembl
MANE
Ensembl VEP
GTEx
Human Phenotype Ontology

For research use. Classifications are reproduced from their source databases and are not a substitute for clinical interpretation.

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