Question 1
The As of bipolar disorder is 7. This means:
An individual is no more likely to develop bipolar disorder than the average person if a cousin is affected
An individual is no more likely to develop bipolar disorder than the average person if a sibling is affected
An individual has 7 times the risk of developing bipolar disorder if sibling is affected
An individual has 7 times the risk of developing bipolar disorder if cousin is affected

Question 2
Researchers are trying to determine if the MOGEN1 allele is associated with the disease acute studyitis. The number of individuals with acute studyitis that have the MOGEN1 allele is 1200. The number of individuals that have the MOGEN1
allele but do not have acute studyitis is 300. The number of individuals without the MOGEN1 allele and with acute studyitis is 200. The number of individuals without the MOGEN1 allele and without acute studyitis is 1000. The odds of being affected with acute studyitis when the MOGEN1 allele is absent is:
4
20
0.05
0.2

Question 3
When one monozygotic twin has Alzheimer disease, the other twin has Alzheimer disease about 50% of the time. This suggests that there is a non-genetic component to Alzheimer disease.
True
False

Question 4
One of the factors that makes next generation sequencing so efficient is that sequencing occurs in parallel for many fragments and that fragments can be mapped to the reference sequence generated by the Human Genome Project
True
False

Question 5
The increased incidence of a disease within a certain time period suggests
There is a genetic component to the disease likely due to an increased number of mutations causing the disease
There is an environment component to the disease
It doesn't suggest anything about the disease
There is a genetic component to the disease likely due to people with the disease having more children

Question 6
Researchers are trying to determine if the MOGEN1 allele is associated with the disease acute studyitis The number of individuals with acute studyitis that have the MOGEN1 allele is 1200. The number of individuals that have the MOGEN1
allele but do not have acute studyitis is 300. The number of individuals without the MOGEN1 allele and with acute studyitis is 200. The number of individuals without the MOGEN1 allele and without acute studyitis is 1000. The odds ratio for acute studyitis is:
0.2
4
20
0.05

Question 7
Whole exome sequencing (select all that apply)
Is popular in diagnostic testing
Refers to the sequencing of the 2% of protein coding exons
Is more cost effective than whole genome sequencing
will not identify sequences in non-coding DNA

Question 8
Linkage analysis was an excellent strategy for identifying the gene underlying cystic fibrosis because (select all that apply):
There was little understanding of the underlying disease pathology. such that candidate gene approach would not be effective
It is disease caused by the combination of many variants of small effect
It is found in relatively high frequency in white populations, so there are many families that could be sampled
It has Mendelian inheritance pattern

Question 9
Monozygotic twins (select all that apply):
Share 100% of their genes
Are also known as fraternal twins
Share 50% of their genes
Arise from the same rygote

Question 10
Challenges in gaining informed consent for genome studies include (select all that apply):
Information gained from genome sequencing may be misused
Genomic studies are often screening studies thus it is difficult to be explicit in what the researcher would like to gain consent for
Ensuring that study participants understand the study
There is possibility of infringement of privacy because it is very challenging to de-identify data

Question 11
In case control study (select all that apply):
When matching cases and controls. factors such as ethnicity. age and household environment are taken into account
The family history of the cases and controls are examined for evidence of disease in the family
The control is ideally matched as closely as possible to the case but is affected by the disease
The control is ideally matched as closely as possible to the case but is not affected by the disease

Question 12
Privacy can be guaranteed in genome sequencing studies:
True
False

Question 13
Some of the advantages of SNP mapping are (select all that apply):
There is often lot of SNP variability
They are relatively easy to identify in high throughput manner
They often have deleterious effect in the genome
They are found at high frequency in the genome

Question 14
Factors that lead to the ability to perform GWAS are (select all that apply):
SNP microarrays that made genotyping SNPs across a genome cost effective and fast
Funding from the Gates Foundation
Whole genome sequencing technology that was necessary for the ability to perform GWAS
Knowledge of 300,000 1 million SNPs segregating in the genome, thanks to the HapMap project

Question 15
Researchers are trying to determine if the MOGEN1 allele is associated with the disease acute studyitis. The number of individuals with acute studyitis that have the MOGEN1 allele is 1200. The number of individuals that have the MOGEN1
allele but do not have acute studyitis is 300. The number of individuals without the MOGEN1 allele and with acute studyitis is 200. The number of individuals without the MOGEN1 allele and without acute studyitis is 1000. The odds of being affected with acute studyitis when the MOGEN1 allele is present is:
0.2
4
0.05
20

Question 16
Some possible explanations for missing heritability include (select all that apply):
Many variants of very small effect size contribute to disease
Rare variants of large effect size are predominantly contributing to disease
Environment effects are contributing to heritability
Epigenetic factors are contributing to disease and are not appreciated by GWAS

Question 17
Factors that can contribute to the manifestation of a disease include (select all that apply):
Environment
Chance events
Epigenetics
Genetics

Question 18
Disease concordance between monozygotic twins is 92% and between dizygotic twins is 10% for autism spectrum disorder. This suggests (select all that apply):
If one monozygotic twin has an autism spectrum disorder. the other twin will always have an autism spectrum disorder
Autism spectrum disorder is complex
A genetic component to the disorder
The absence of an environmental component to the disease

Question 19
Evidence that other genes modify pulmonary disease severity in Cystic Fibrosis (CF) patients includes:
Non-Mendelian inheritance of CF
CF being caused by mutations in genes other than CFTR
The variation in pulmonary disease severity among CF patients that have the same CFTR pathogenic mutation
Linkage disequilibrium of the CFTR gene with genes involved in lung function

Question 20
Families that have more than one sibling affected by a disease are more likely to come to a researcher's attention than families with only one sibling affected. This is an example of:
Ascertainment bias
Recall bias
Bias of shared environment
Hospital bias

Question 1 The As of bipolar disorder is 7. This means: An indivi...