مراجَع تحريريًا · sa-adult-genomics-group

Saudi Adult Genomics Group National Adult Cohort

السعوديةHuman health and population genomicsCompleted / retained

Characterized the diagnostic spectrum of Mendelian disease presenting in Saudi adulthood across a national clinical network.

01 / نظرة عامة على المشروع

ما الذي يثبته السجل.

النطاق الجغرافي: Adults and families from all regions of Saudi Arabia
نوع المشروع: National multisite clinical-genomics consortium cohort
مجال البحث: Adult Mendelian disease and clinical genomics
السنوات: غير مذكور
حالة المشروع: completed
أساس تحديد الحالة: The multisite cohort and diagnostic landscape were published in 2025; continuation of the consortium has not yet been documented.
تاريخ دليل الحالة: 2025-09-29
الحجم: 2,763 adults from 2,529 families: 2,202 exomes and 561 genomes; 38.9% diagnostic yield across 535 Mendelian genes.

02 / المؤسسات والمجتمع

الجهات القائدة: Saudi Adult Genomics Group · Lifera Omics · King Abdullah International Medical Research Center (KAIMRC)
الجهات الشريكة: Ministry of National Guard Health Affairs · King Saud bin Abdulaziz University for Health Sciences · King Faisal Specialist Hospital & Research Centre · Saudi universities and hospitals
الكائن / المجتمع: Saudi adults with suspected genetic disorders from 2,529 families

03 / البيانات والإتاحة

Not stated; multisite clinical/controlled

لا يوجد رقم وصول أو معرّف عام مدرج لهذا السجل.

04 / الدليل والمصدر

Named national consortium and large multisite adult WES/WGS cohort with a peer-reviewed project paper.

Potential overlap with institutional referral databases and the Lifera/CENTOGENE biodatabank is not disclosed.

الإصدار v0.2.0