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Question 1

Approximately what percentage of the human genome codes for proteins?

Question 2

What are the protein-coding regions of a gene called?

Amino acids

Introns

Untranslated regions

Exons

Question 3

Which of the following would lead you to suspect that a copy number variant (CNV) was pathogenic and causing disease in a patient?

The CNV was 10 megabases (Mb) in size

The patient’s healthy parent has the same CNV

The CNV does not contain any known genes or functional elements

The CNV was common in the population

Question 4

Which of the following statements is TRUE about common genetic variants:

They are more likely to be found in genes

They are likely to have occurred more recently in human history

They have probably all been discovered already

They are likely to be deleterious

Question 5

Which of the following statements about mutations is FALSE:

Mutations in the coding region of a gene may impact the protein structure

Somatic mutations are passed down from parents to offspring

Rare variants are collectively more abundant in the population than common variants

De novo mutations are not inherited from either parent

Question 6

What is linkage disequilibrium?

The likelihood that a person with a genetic disease has a given variant

The likelihood that a person with a genetic variant will have a genetic disease

The likelihood that two persons of the same race will have the same genetic variant

The likelihood that a given genetic variant will be inherited together with another genetic variant

Question 7

Two people with different ancestries are likely to differ in many ways EXCEPT:

The length of their haplotype blocks

Their allele frequencies

The number of rare variants

Their de novo mutation rates

Question 8

What percentage of humans do you think possess a genetic change that is known to be associated with any type of inherited genetic condition?

50-75%

10-50%

Less than 10%

All or nearly all

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Genomic and Precision Medicine

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Genomic and Precision Medicine
by Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine

Genomic and Precision Medicineby Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine
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