Consanguinity and Recessive Disorders
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological disorders. The findings were published in the European Journal of Human Genetics.
- Holger Hengel , Dr. med.
- et al.