12 Questions
What is the primary focus of variant detection in diagnostics?
Targeted investigation of specific gene locations or types of variants
What is the significance of a variant having a minor allele frequency (MAF) > 5%?
It is unlikely to be disease-causing
What is the general assumption about synonymous variants?
They are not disease-causing
What is the purpose of critically appraising the evidence in determining variant pathogenicity?
To evaluate the evidence supporting the variant's disease-causing potential
What is the term for a change in DNA sequence that is disease-causing?
Mutation
Why are disease-associated databases, such as HGMD and ClinVar, used in determining variant pathogenicity?
To identify known disease-associated variants
What is the primary benefit of accurate molecular diagnosis?
Facilitating access to appropriate treatment and services
What is the main distinction between targeted and untargeted genetic testing?
The focus on specific genes or the entire genome
What is the term for a genetic variant that does not cause disease?
Benign variant
Why is it important to distinguish between pathogenic and benign variants?
To provide accurate diagnosis and prevent misinterpretation
What is the purpose of cascade screening?
To identify asymptomatic family members
What is the benefit of genetic testing in the context of disease and treatment monitoring?
Monitoring response to treatment and detecting relapse
Learn about the differences between targeted and untargeted genetic testing, approaches to filtering variants, and determining the pathogenicity of novel sequence variants. Understand the importance of accurate molecular diagnosis in facilitating appropriate treatment.
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