About Enigma Clinical Platform

Enigma Clinical Platform brings genomic variation, population frequencies, clinical annotations and research evidence together in one connected workspace. Built by Enigma Genomics, the platform helps clinicians, researchers and computational biologists explore genes, variants, diseases and pharmacogenomics with traceable links to the underlying sources.

The current population dataset describes the Saudi population. Its frequencies remain specific to that cohort and are presented alongside global reference data rather than as a universal population baseline. The current cohort was originally published as the Saudi Genomics Platform. Rebranding the application does not change its population, source data or release.

To make genomic evidence easier to explore, compare and interpret through clear population context and transparent sources.

• Connect genomic evidence across variant classes, genes, phenotypes and published research.
• Preserve population context through clearly labelled cohort frequencies and global comparisons.
• Support variant interpretation with clinical annotations, evidence frameworks and source attribution.
• Enable collaboration through controlled access, data contributions and reproducible research exports.

The current release contains data from 1,378 participants inSaudi Arabia. The cohort includes healthy individuals and patients with childhood-onset genetic disorders and is mapped to GRCh38.

• Whole-exome sequencing
• Quality control: Genotypes with GQ < 20 removed; low-quality sites flagged
• Population frequencies, functional annotations and phenotype context where available

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