Editorially curated · sa-shgp
Saudi Human Genome Program
Saudi Arabia's national umbrella for population sequencing, rare-disease gene discovery, clinical diagnostics and precision-medicine translation.
01 / Project overview
What the record establishes.
- Geographic scope
- Nationwide Saudi population and clinical referral network
- Project type
- National population and clinical genomics umbrella program
- Research domain
- Population genomics, rare disease, precision medicine and pharmacogenomics
- Years
- 2013–
- Lifecycle status
- active
- Status basis
- Technical launch was announced on 2013-12-09; the program was formally inaugurated under Vision 2030 on 2018-11-05, entered a stated second phase through a 2022 Pfizer MoU, and continued to be showcased in 2025.
- Status evidence date
- 2025-12-31
- Scale
- Original goal of 100,000 genomes/exomes in five years; later official summary reports 61,177 samples, 7,500 pathogenic variants, including 3,000 variants associated with about 1,230 rare disorders, 134 papers and eight laboratories.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- King Abdulaziz City for Science and Technology (KACST)
- Partner organizations
- King Faisal Specialist Hospital & Research Centre (KFSHRC) · National genome centers and hospitals · Thermo Fisher Scientific / Life Technologies · Pfizer
- Organism / population
- Saudi citizens, including healthy participants and patients with inherited disease
03 / Data and access
What exists and how it can be reached.
Data types
- whole-genome sequencing
- whole-exome sequencing
- targeted panels
- clinical phenotypes
- pharmacogenomics
Data access
Controlled national/clinical infrastructure; selected aggregate and publication outputs public
Identifiers
No public accession or identifier is listed for this record.
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Flagship national genomics program with official launch history, multi-institution infrastructure, large reported sample volume and many child datasets.
Editorial note
All alternate names are one umbrella. The 2018 Vision 2030 inauguration is a relaunch/formal inauguration, not a second project. Saudi Mendeliome, the national clinical-exome cohort and SHGP pharmacogenomics cohort are child outputs. The acronym SGP also refers to the separate Ministry of Health Saudi Genomics Platform.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
- additional record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0