Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening

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 perform...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
druze
genetic isolate
founder population
whole exome sequencing
recurring pathogenic variants
Online Access:https://www.mdpi.com/2073-4425/14/4/937

Internet

https://www.mdpi.com/2073-4425/14/4/937

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