Whole-genome sequencing of patients with rare diseases in a national health system

Keyphrases

• Rare Diseases 100%
• Whole Genome Sequencing 100%
• National Health System 100%
• Whole-genome Sequence Data 50%
• Genetic Diagnosis 25%
• Causative Gene 25%
• Red Blood Cells 25%
• Healthcare 25%
• Non-coding Region 25%
• Quantitative Traits 25%
• Molecular Diagnostics 25%
• Rare Allele 25%
• Disease Association 25%
• GATA1 25%
• Non-coding Variants 25%
• ARPC1B 25%

Biochemistry, Genetics and Molecular Biology

• Whole Genome Sequencing 100%
• Genetics 20%
• Transcription 20%
• Allele 20%
• Coding Region 20%
• Quantitative Trait 20%
• GATA1 20%

Immunology and Microbiology

• Whole Genome Sequencing 100%
• Allele 20%
• Transcription Factor GATA 1 20%
• Quantitative Trait 20%