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مراجَع تحريريًا · qa-qbri-qgp-autism-wgs

QBRI-Qatar Genome Autism Whole-Genome Sequencing Initiative

قطرHuman health and population genomicsCompleted / retained

A QBRI-QGP family sequencing initiative designed to identify rare and inherited autism-risk variants in Qataris and translate locally relevant genomic findings into screening and counseling knowledge.

01 / نظرة عامة على المشروع

ما الذي يثبته السجل.

النطاق الجغرافي
Qatari families recruited primarily through the Shafallah Center in Doha
نوع المشروع
family-trio disease genomics cohort
مجال البحث
autism genomics and neurodevelopmental precision medicine
السنوات
2019–2024
حالة المشروع
planned sequencing phase and initial cohort analysis completed
أساس تحديد الحالة
The October 2019 agreement specified two years of whole-genome sequencing; a 150-person trio cohort recruited under the program was published on 27 October 2024.
تاريخ دليل الحالة
2024-10-27
الحجم
Published analysis included 50 autism probands and both biological parents, totaling 150 genomes at approximately 35x mean depth; it reported 37 candidate variants and 13 genes not previously linked to autism.

02 / المؤسسات والمجتمع

من وما الذي يربطه المشروع.

الجهات القائدة
Qatar Biomedical Research Institute · Qatar Genome Programme
الجهات الشريكة
Hamad Bin Khalifa University · Shafallah Center for Persons with Disabilities · Qatar Foundation
الكائن / المجتمع
Qataris with autism spectrum disorder and their apparently unaffected biological parents

03 / البيانات والإتاحة

ما الموجود وكيف يمكن الوصول إليه.

أنواع البيانات

  • family-trio whole-genome sequencing
  • clinical autism assessments
  • SNV and indel analysis
  • repeat-expansion analysis
  • consanguinity and pedigree data

إتاحة البيانات

Participant-level genomes are not documented as openly deposited; access is subject to QBRI/Qatar ethics, consent and data-governance restrictions.

المعرّفات

  • OtherQBRI-2010-002

04 / الدليل والمصدر

لماذا أُدرج هذا السجل.

أساس الإدراج

Named national institutional collaboration with a reusable family-trio cohort and a published multi-genome dataset.

ملاحظة تحريرية

Distinct from Sidra's BARAKA-Qatar program in lead institution, recruitment pathway and published cohort description, although participant overlap cannot be excluded from public sources. The 2024 publication establishes an analyzed phase, not necessarily closure of all QBRI autism genomics work.

المصادر

  1. primary record source تم التحقق في 2026-08-15
  2. additional record source تم التحقق في 2026-08-15
  3. additional record source تم التحقق في 2026-08-15
  4. additional record source تم التحقق في 2026-08-15

الإصدار v0.2.0

خذ السجل العام معك.