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Consanguinity and Recessive Disorders

Holger Hengel, Dr. med. et al.
March 25, 2020

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.