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Evaluating Genomic Variants in Diagnostic Setting

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Evaluating Genomic Variants in Diagnostic Setting

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Questions and Answers

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%?

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?

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?

To evaluate the evidence supporting the variant's disease-causing potential Signup and view all the answers

What is the term for a change in DNA sequence that is disease-causing?

Mutation Signup and view all the answers

Why are disease-associated databases, such as HGMD and ClinVar, used in determining variant pathogenicity?

To identify known disease-associated variants Signup and view all the answers

What is the primary benefit of accurate molecular diagnosis?

Facilitating access to appropriate treatment and services Signup and view all the answers

What is the main distinction between targeted and untargeted genetic testing?

The focus on specific genes or the entire genome Signup and view all the answers

What is the term for a genetic variant that does not cause disease?

Benign variant Signup and view all the answers

Why is it important to distinguish between pathogenic and benign variants?

To provide accurate diagnosis and prevent misinterpretation Signup and view all the answers

What is the purpose of cascade screening?

To identify asymptomatic family members Signup and view all the answers

What is the benefit of genetic testing in the context of disease and treatment monitoring?

Monitoring response to treatment and detecting relapse Signup and view all the answers