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Editorially curated · sa-adult-genomics-group
Saudi Adult Genomics Group National Adult Cohort
Characterized the diagnostic spectrum of Mendelian disease presenting in Saudi adulthood across a national clinical network.
01 / Project overview
What the record establishes.
- Geographic scope
- Adults and families from all regions of Saudi Arabia
- Project type
- National multisite clinical-genomics consortium cohort
- Research domain
- Adult Mendelian disease and clinical genomics
- Years
- Not stated
- Lifecycle status
- completed
- Status basis
- The multisite cohort and diagnostic landscape were published in 2025; continuation of the consortium has not yet been documented.
- Status evidence date
- 2025-09-29
- Scale
- 2,763 adults from 2,529 families: 2,202 exomes and 561 genomes; 38.9% diagnostic yield across 535 Mendelian genes.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- Saudi Adult Genomics Group · Lifera Omics · King Abdullah International Medical Research Center (KAIMRC)
- Partner organizations
- Ministry of National Guard Health Affairs · King Saud bin Abdulaziz University for Health Sciences · King Faisal Specialist Hospital & Research Centre · Saudi universities and hospitals
- Organism / population
- Saudi adults with suspected genetic disorders from 2,529 families
03 / Data and access
What exists and how it can be reached.
Data types
- whole-exome sequencing
- whole-genome sequencing
- clinical phenotypes
Data access
Not stated; multisite clinical/controlled
Identifiers
No public accession or identifier is listed for this record.
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Named national consortium and large multisite adult WES/WGS cohort with a peer-reviewed project paper.
Editorial note
Potential overlap with institutional referral databases and the Lifera/CENTOGENE biodatabank is not disclosed.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0