Editorially curated · gcc-gme-variome
Greater Middle East Variome
Generated a coding-variation reference for an underrepresented region and demonstrated its use in filtering candidate variants for recessive disease discovery.
01 / Project overview
What the record establishes.
- Geographic scope
- Greater Middle East; Arabian Peninsula component includes Saudi Arabia, Qatar, Kuwait, United Arab Emirates and Oman
- Project type
- Regional population exome reference
- Research domain
- Population genomics and Mendelian disease discovery
- Years
- Not stated
- Lifecycle status
- completed
- Status basis
- The reference cohort and variome were published in 2016; current third-party clinical annotation documentation still describes the data source, while the original browser's maintenance is uncertain.
- Status evidence date
- 2026-08-15
- Scale
- 1,111 whole exomes; the 2018 Kuwait study reports 214 Arabian Peninsula samples, including 45 from Kuwait.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- Greater Middle East Variome Consortium
- Partner organizations
- King Faisal Specialist Hospital and Research Centre · UC San Diego · Rockefeller University · Broad Institute · King Faisal Specialist Hospital & Research Centre investigators · Regional and international institutions
- Organism / population
- 1,111 unrelated individuals from six Greater Middle East subregions
03 / Data and access
What exists and how it can be reached.
Data types
- whole-exome sequencing
- allele frequencies
- population structure
- variant frequencies
- autozygosity
Data access
Variant frequencies remain available through annotation products; original project browser status requires review
Identifiers
- PubMed
PMID:27428751 - PMCID
PMCID:PMC5019950 - DOI
DOI:10.1038/ng.3592
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Landmark regional population-genomics project with multi-GCC representation and reusable variant frequencies.
Editorial note
Bahrain is not listed among the project countries in the corroborating primary/secondary sources found; do not label this all-six-GCC. Regional rather than Saudi-exclusive; include as historical/adjacent infrastructure and do not assign the full 1,111 sample count to Saudi Arabia.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0