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Editorially curated · sa-shgp-clinical-exome
SHGP National Clinical Exome Referral Cohort
Evaluated first-tier clinical exome testing at national scale and catalogued diagnoses and candidate disease genes in Saudi families.
01 / Project overview
What the record establishes.
- Geographic scope
- Families referred from institutions nationwide
- Project type
- National clinical rare-disease cohort; SHGP child dataset
- Research domain
- Rare-disease diagnostic genomics
- Years
- Not stated
- Lifecycle status
- completed
- Status basis
- Results from the completed nationwide referral series were published in 2019.
- Status evidence date
- 2019-05-30
- Scale
- 3,310 clinical exome tests from 2,219 Saudi families.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- Saudi Human Genome Program · King Faisal Specialist Hospital & Research Centre (KFSHRC)
- Partner organizations
- Saudi clinical referral network
- Organism / population
- Saudi families referred for clinical exome testing
03 / Data and access
What exists and how it can be reached.
Data types
- clinical whole-exome sequencing
- phenotypes
- family segregation
Data access
Aggregate publication results public; individual-level data controlled
Identifiers
No public accession or identifier is listed for this record.
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Defined, large nationwide clinical-exome dataset that produced a national genetic-disease landscape.
Editorial note
SHGP child cohort, not a separate program. Probable partial overlap with Saudi Mendeliome and PAVS source cohorts.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0