Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

Keyphrases

• Monogenic 100%
• Exome Sequencing 100%
• Causal Variants 100%
• Variant Identification 100%
• Genetic Structure 66%
• Structural Properties 33%
• Related Individuals 33%
• Sequencing Technology 33%
• Frequency Threshold 33%
• Conservation Properties 33%
• Functional Properties 33%
• Exome 33%
• Filter Performance 33%
• Functional Validation 33%
• Finite Sample Size 33%
• Common Variants 33%
• Reference Panel 33%

Biochemistry, Genetics and Molecular Biology

• Genetic Structure 100%
• Exome Sequencing 100%
• Exome 50%
• Sample Size 50%