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Clinical Genetics and Bioinformatics
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You have a family that presents with a rare autosomal dominant phenotype that has not yet been described in the literature. You would like to sequence all the members and perform a variant analysis to identify the disease-causing variant. Which is the optimal method for this situation?
What is a common feature of short-read sequencing?
27. From the provided VCF file line, determine the individual's genotype and specify whether it is homozygous or heterozygous:
In an autosomal recessive disease, which variants are typically the focus?
What is the primary purpose of the ClinVar database?
Which of the following is an advantage of long-read sequencing compared to short-read sequencing?
Which of the following is an example of a complex disorder rather than a single-gene disorder?
Which statement best describes the use of whole-exome sequencing (WES) compared to targeted gene panels?
Choose allele frequencies that are considered to be rare in the given population:
What is meant by a “variant of uncertain clinical significance” (VUS) in genetic analysis?