Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background: Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders. Methods: Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was performed (HGDP-cohort). Additionally, we performed whole exome sequencing (WES) of 118 Druze individuals: 38 trios and 2 couples, representing geographically distinct clans (WES-cohort). Rates of validated PV were compared with rates in worldwide and Middle Eastern populations, from the gnomAD and dbSNP datasets. Results: Overall, 34 PVs were identified: 30 PVs in genes underlying AR disorders, 3 additional PVs were associated with autosomal dominant (AD) disorders, and 1 PV with X-linked-dominant inherited disorder in the WES cohort. Conclusions: The newly identified PVs associated with AR conditions should be considered for incorporation into prenatal-screening options offered to Druze individuals after an extension and validation of the results in a larger study.

Original languageEnglish
Article number937
Issue number4
StatePublished - 18 Apr 2023

Bibliographical note

Publisher Copyright:
© 2023 by the authors.


The Shomron Laboratory is supported by Horizon 2020 - Research and Innovation Framework Programme, PSY-PGx-945151; Israel Science Foundation, Israel Precision Medicine Partnership (IPMP) 2923/20; The Edmond J. Safra Center for Bioinformatics at Tel Aviv University; The Koret-UC Berkeley-Tel Aviv University Initiative in Computational Biology and Bioinformatics; The QBI/UCSF-Tel Aviv University joint Initiative in Computational Biology and Drug Discovery; Collaborative clinical Bioinformatics research of the Edmond J. Safra Center for Bioinformatics and Faculty of Medicine at Tel Aviv University; Israeli Ministry of Science and Technology, Israeli–Russia; Kodesz Institute for Technologies in Healthcare; Tel Aviv University Healthy Longevity Research Center; Djerassi-Elias Institute of Oncology; Kirschman Dvora Eleonora Fund for Parkinson’s Disease; Tel Aviv University Innovation Laboratories (TILabs).

FundersFunder number
Israel Precision Medicine Partnership2923/20
Koret-UC Berkeley-Tel Aviv University
UCSF-Tel Aviv University
Israel Science Foundation
Tel Aviv University
Queensland Brain Institute
Ministry of science and technology, Israel
Horizon 2020PSY-PGx-945151


    • druze
    • founder population
    • genetic isolate
    • recurring pathogenic variants
    • whole exome sequencing


    Dive into the research topics of 'Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening'. Together they form a unique fingerprint.

    Cite this