Podcast
Questions and Answers
What is the primary focus of variant detection in diagnostics?
What is the primary focus of variant detection in diagnostics?
- Comparison of an individual's DNA with a normal population
- Targeted investigation of specific gene locations or types of variants (correct)
- Whole exome or whole genome sequencing
- Identification of all variants in an individual's DNA
What is the significance of a variant having a minor allele frequency (MAF) > 5%?
What is the significance of a variant having a minor allele frequency (MAF) > 5%?
- It is a novel variant
- It is unlikely to be disease-causing (correct)
- It is likely to be disease-causing
- It is a benign variant
What is the general assumption about synonymous variants?
What is the general assumption about synonymous variants?
- They are not disease-causing (correct)
- They are likely to be disease-causing
- They may have a gain of function effect
- They may have a loss of function effect
What is the purpose of critically appraising the evidence in determining variant pathogenicity?
What is the purpose of critically appraising the evidence in determining variant pathogenicity?
What is the term for a change in DNA sequence that is disease-causing?
What is the term for a change in DNA sequence that is disease-causing?
Why are disease-associated databases, such as HGMD and ClinVar, used in determining variant pathogenicity?
Why are disease-associated databases, such as HGMD and ClinVar, used in determining variant pathogenicity?
What is the primary benefit of accurate molecular diagnosis?
What is the primary benefit of accurate molecular diagnosis?
What is the main distinction between targeted and untargeted genetic testing?
What is the main distinction between targeted and untargeted genetic testing?
What is the term for a genetic variant that does not cause disease?
What is the term for a genetic variant that does not cause disease?
Why is it important to distinguish between pathogenic and benign variants?
Why is it important to distinguish between pathogenic and benign variants?
What is the purpose of cascade screening?
What is the purpose of cascade screening?
What is the benefit of genetic testing in the context of disease and treatment monitoring?
What is the benefit of genetic testing in the context of disease and treatment monitoring?
