Repository series · ncbi-prjna1221597
Precision diagnosis of neurodevelopmental disorders in Middle Eastern Populations
We constructed de novo genome assemblies for six family trios from diverse Middle Eastern ancestries (Sudan, Jordan, Syria, Qatar, and Afghanistan), involving probands with various unresolved neurodevelopmental conditions. We generated high-quality, nearly complete genome assemblies for trios, revealing extended novel sequence impacting known genes, novel HLA/KIR alleles, and strong signals of inbreeding, with runs of homozygosity covering large parts of individual chromosomes. We also identified potential disease variants underlying the unresolved symptoms. Also, the assemblies uncovered unique variation relative to existing references, showing enhanced mapping and variant calling of Middle Eastern genomes. The dataset available through dbGaP includes raw short (Illumina) and long... (for more see dbGaP study page.)
The accession and its GCC connection are verified. Registration alone does not establish that the broader research programme remains active.
01 / Project overview
What the record establishes.
- Geographic scope
- Qatar connection indexed in BioProject metadata
- Project type
- Repository project
- Research domain
- Human health and population genomics
- Years
- Not stated
- Lifecycle status
- repository_recorded
- Status basis
- The BioProject registration date is unavailable; operational lifecycle is not asserted.
- Scale
- 1 BioProject accession grouped by matching submitter, date, data type and narrative.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- NHGRI
- Partner organizations
- Not stated
- Organism / population
- Homo sapiens
03 / Data and access
What exists and how it can be reached.
Data types
- Not stated
Data access
Public repository metadata with linked data where supplied by the submitter
Identifiers
- BioProject
PRJNA1221597
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Exact country-name match in authoritative NCBI BioProject metadata; repeated submissions are grouped into one Atlas series.
Editorial note
Repository verification confirms the accession and regional connection, not whether the broader research programme remains active.
Sources
- primary record source Verified 2026-08-15
Release v0.2.0