Mitochondrial & Y-Chromosome Haplogroups · Enigma Clinical

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Enigma ClinicalPlatform

Genomic evidence for variant interpretation and discovery.

Enigma Clinical v1 · GRCh38

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Rare diseases
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Batch variant search
Liftover (hg38 / b37 / hg19)
Pedigree tree builder
Clinical reasoning copilot
PGx diplotype translator
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Mitochondrial & Y haplogroups
3D Protein structure viewer (Mol*)
Homozygous LoF registry
ClinVar discordance alerts
Founder variant registry
Germline classification
Somatic classification
SV implementation
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GA4GH Beacon v2
API for developers
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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
Franklin by Genoox
GeneBe

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

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