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:

1. Based on the alignment pattern, is this variant likely to be homozygous or heterozygous?
2. 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:

1. Based on the alignment pattern, is this variant likely to be homozygous or heterozygous?
2. Determine and write down the genotype in this position.

Which statement best describes the relationship between alternative splicing and protein isoforms?