Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais

• Główni autorzy: Wanna Chetruengchai (Autor), Prasit Phowthongkum (Autor), Vorasuk Shotelersuk (Autor)
• Format: Książka
• Wydane: BMC, 2024-01-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive and X-linked conditions in couples se...