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Frequently asked questions
About the Enigma Clinical data and how to use it.
The initial release includes data from 1,378 whole-exome sequences. Samples include both healthy individuals and patients with childhood-onset genetic disorders. Only exome data is included in this release.
All variants are mapped and harmonized to the GRCh38 reference genome to ensure compatibility with current annotation tools and databases.
Variants with genotype quality (GQ) < 20 were removed. Additionally, sites with poor coverage or ambiguity were marked as low quality (LQ) and flagged for downstream analysis. These quality control filters help improve reliability of the variant data.
Yes. All variants were annotated using the most up-to-date version of variant databases. Annotations reflect the current understanding of clinical relevance and population frequency.
Phenotypic data provided by clinical laboratories was standardized using the Human Phenotype Ontology (HPO). These HPO terms are linked to specific variants, allowing for genotype-phenotype correlation in both clinical and research contexts.
Yes. Future releases of Enigma Clinical will include:
- Reanalysis from raw sequencing data (FASTQ/CRAM)
- Expansion to include whole-genome sequencing and other omics layers
- Updated variant annotations and clinical classifications
Access is currently limited to approved institutions and researchers in accordance with ethical guidelines and national data-sharing policies. A secure access process is being developed and will be shared in a future release.
We welcome collaboration. Institutions interested in contributing genomic data can contact us via the Contact page. Data submission must follow standard formats and quality assurance protocols defined by Enigma Clinical.
Still have a question?
sgp-support@enigmagenomics.com