Sample interview questions: How do you approach identifying and characterizing genetic variants associated with disease risk?
Sample answer:
Approaching the Identification and Characterization of Genetic Variants Associated with Disease Risk
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Define the disease and establish its genetic basis: Classify the disease, determine its mode of inheritance, and conduct family studies to establish a genetic component.
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Identify candidate genes and variants: Leverage databases like Ensembl or RefSeq to identify genes within known disease-associated regions. Use computational tools to predict the impact of genetic variants within these genes on protein function.
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Collect samples and extract DNA: Obtain DNA samples from affected individuals, unaffected family members, and control populations. Use standard molecular biology techniques to extract and quantify DNA.
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Perform genome-wide association studies (GWAS): Use genotyping arrays or sequencing platforms to analyze genetic variations across the entire genome. Statistical methods identify single nucleotide polymorphisms (SNPs) and other variants associated with disease risk.
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Confirm candidate variants: Validate identified variants through independent studies, such as targeted sequencing or replication in larger cohorts. This eliminates false positives and confirms the association with disease risk.
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