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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Detalles Bibliográficos
Autores principales: Avnat, Eden, Shapira, Guy, Shoval, Shelly, Israel-Elgali, Ifat, Alkelai, Anna, Shuldiner, Alan R., Gonzaga-Jauregui, Claudia, Zidan, Jamal, Maray, Taiseer, Shomron, Noam, Friedman, Eitan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137689/
https://www.ncbi.nlm.nih.gov/pubmed/37107695
http://dx.doi.org/10.3390/genes14040937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137689/
https://www.ncbi.nlm.nih.gov/pubmed/37107695
http://dx.doi.org/10.3390/genes14040937

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