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Editorially curated · sa-shgp-mendeliome
Saudi Mendeliome
Developed a Mendelian-disease panel suite and applied it with exome sequencing to diagnose inherited disorders in highly consanguineous Saudi families.
01 / Project overview
What the record establishes.
- Geographic scope
- Saudi rare-disease referral families
- Project type
- National rare-disease diagnostic cohort; SHGP child project
- Research domain
- Mendelian disease genomics
- Years
- Not stated
- Lifecycle status
- completed
- Status basis
- The principal project paper was published in 2015 and describes a mature diagnostic cohort and panel resource.
- Status evidence date
- 2015-06-24
- Scale
- Thirteen multiplex panels covering roughly 3,000 known Mendelian genes; mature cohort of 2,357 cases, with 43% diagnosed by panels and a further 11% by exome sequencing.
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
- King Salman Center for Disability Research
- Organism / population
- Saudi patients and multiplex families with suspected Mendelian disease
03 / Data and access
What exists and how it can be reached.
Data types
- targeted next-generation sequencing panels
- whole-exome sequencing
- family phenotypes
Data access
Aggregate results public; individual-level clinical data 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-scale rare-disease cohort and diagnostic resource with thousands of cases and a peer-reviewed project paper.
Editorial note
Child of SHGP, not a separate national umbrella. Likely overlaps later national clinical-exome cases and the PAVS aggregate resource.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0