Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

Keyphrases

• Genetic Landscape 100%
• Biobank 100%
• Middle Eastern 100%
• Inherited Metabolic Diseases 100%
• Genome Sequencing 25%
• Qatari 12%
• Qatar 12%
• Qatar Biobank 12%
• Gain-of-function mutation 12%
• High Incidence 12%
• Consanguinity 12%
• Public Health Policy 12%
• Live Birth 12%
• Autosomal Recessive 12%
• Unrelated Individuals 12%
• Homocystinuria 12%
• Population-based Study 12%
• Single nucleotide Variation 12%
• Phenylketonuria 12%
• Newborn Screening 12%
• High Carrier Frequency 12%
• Hyperphenylalaninemia 12%
• Nuclear Genes 12%
• Carrier Screening 12%
• Heterozygous Pathogenic Variants 12%

Medicine and Dentistry

• Genome Sequencing 100%
• Consanguinity 50%
• Single Nucleotide Polymorphism 50%
• Autosomal Recessive Inheritance 50%
• Gene Frequency 50%
• Public Health Policy 50%
• Phenylketonuria 50%
• Homocystinuria 50%
• Newborn Screening 50%
• Hyperphenylalaninemia 50%

Biochemistry, Genetics and Molecular Biology

• Genome Sequencing 100%
• Gene Frequency 50%
• Single-Nucleotide Polymorphism 50%
• Autosomal Recessive Inheritance 50%
• Homocystinuria 50%
• Consanguinity 50%
• Newborn Screening 50%
• Phenylketonuria 50%
• Nuclear Gene 50%