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Clinical Genetics and Bioinformatics
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Definition of major abnormalities. Write an example of a major abnormality
What is the risk that a child of healthy spouses (IV-1 and IV-2) will have an autosomal recessive disease that has been diagnosed in a relative of the spouses (III-3)?
Which picture shows a Darwin tubercle?
The patient (III-1) has an autosomal recessive disorder. What is the risk of being a carrier of this disorder for his relative IV-4?
In the image below, multiple FASTQ reads are aligned to a specific genomic position represented in the BAM file. Find the variant indicated by multiple G (guanine).
Questions:
- Based on the alignment pattern, is this variant likely to be homozygous or heterozygous?
- Determine and write down genotype in this position.
What do exons and introns represent in a gene structure?
Which statement best describes a promoter region?
In the image below, multiple FASTQ reads are aligned to a specific genomic position represented in the BAM file. Find the variant indicated by multiple T (thymine).
Questions:
- Based on the alignment pattern, is this variant likely to be homozygous or heterozygous?
- Determine and write down the genotype in this position.
Which statement best describes the relationship between alternative splicing and protein isoforms?