Create Quiz

Genomics - The Study of Genomes | Quiz test

Genomics - The Study of Genomes | Quiz test

Genomics is the study of whole genomes of organisms, and incorporates elements from genetics. Genomics uses a combination of recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyse the structure and function of genomes.

You can mute/unmute sounds from here

You May Get Result Of Genomics - The Study of Genomes | Quiz test

Less than 25%
25% - 50%
51% - 75%
More than 75%
POST YOUR ANSWER (READ ANSWERS)

Quiz Questions And Answers

What is your patient's phenotype?

It is not specified on the report
A pathogenic variant in the TCF4 gene
Severe intellectual disability, microcephaly, slender hands and feet, and a coarse face

What kind of test and analysis was done?

Whole genome sequencing
Whole genome sequencing with whole genome analysis
Trio sequencing with whole genome analysis

Who was tested?

Your patient
Your patient and their parents

What was the result of the primary analysis?

A pathogenic variant was identified in the TCF4 gene, with no known associated disorder
A pathogenic variant was identified in the TCF4 gene, supporting a diagnosis of Pitt-Hopkins syndrome
A pathogenic variant was identified in the TCF4 gene, confirming a diagnosis of Pitt-Hopkins syndrome

How was this variant inherited?

De novo
Autosomal dominant
Autosomal recessive
X-linked dominant

What are the chances that your patient’s parents would have another child with Pitt-Hopkins syndrome?

None
25%
100%
A slightly elevated risk compared to people who do not have a child with Pitt-Hopkins syndrome.

What evidence supports the classification of this variant?

It is located in a critical and well-established functional domain without benign variation
It has been observed in multiple unrelated patients with the same phenotype (and absent in controls)
It is the same amino acid change as a previously established pathogenic variant
It has multiple lines of computational evidence supporting a deleterious effect on the gene or gene product
ANSWERS

Currently, we have no comments. Be first to comment on this quiz.

Genomics - The Study of Genomes | Quiz test : Test Trivia

Ultimate impossible accurate personality honest Quiz Game

How do you rate this quiz?

Average rating 4.8 / 5. Vote: 5
Embed This Quiz
Copy the code below to embed this quiz