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Editorially curated · qa-qatari-reference-genome

Qatari Reference Genome

QatarHuman health and population genomicsCompleted / retained

Population-specific major-allele references and variant catalog designed to improve alignment and Mendelian disease interpretation for Qatari and related Middle Eastern populations.

01 / Project overview

What the record establishes.

Geographic scope
National Qatari population reference
Project type
population reference genome and public dataset
Research domain
human population genomics and reference resources
Years
2015–2016
Lifecycle status
completed reference; public sequence resource
Status basis
The QTRG paper was published 30 June 2016 and made mapped sequence, variant calls, customized references, and interpretation tools publicly available.
Status evidence date
2016-06-30
Scale
1,376 individuals across WGS/exome experiments; approximately 26 million SNPs and indels; QTRG1-3 references and 122 curated pathogenic variants.

02 / Organizations and population

Who and what the project connects.

Lead organizations
Weill Cornell Medicine-Qatar
Partner organizations
Sidra Medicine · Hamad Medical Corporation · Cornell University
Organism / population
1,376 sequenced Qataris and Qatar residents in the published resource

03 / Data and access

What exists and how it can be reached.

Data types

  • whole-genome sequencing
  • whole-exome sequencing
  • BAM
  • VCF
  • major-allele reference
  • pathogenic variant catalog

Data access

Open SRA sequence/variant resources and public reference tools as described in the paper.

Identifiers

  • Sequence studySRP060765
  • Sequence studySRP061943
  • Sequence studySRP061463

04 / Evidence and provenance

Why the record is included.

Inclusion basis

Reusable public population reference, variant catalog, and multi-sample sequence dataset.

Editorial note

Scientific precursor/complement to QGP, not the same program. The paper's 1,376 includes 1,161 Qataris plus 215 non-Qatari residents and repeated experiments for one sample.

Sources

  1. primary record source Verified 2026-08-15
  2. additional record source Verified 2026-08-15
  3. additional record source Verified 2026-08-15

Release v0.2.0

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