Deck 18: The Genetic Analysis of Development

Question 1

The Human Genome Project was a prominent example of _______________,which contrasted with _______________ approaches.

A) applied research;basic
B) practical biology;theoretical
C) shotgun approaches;targeted
D) archival science;abstract
E) discovery science;hypothesis-driven

Answer 1

E

Question 2

Why is low-cost sequencing important to medicine,considering that the human genome project is considered complete?

A) The original sequence is now known to contain a high proportion of misassembled regions.
B) The original sequence is now known to contain a high proportion of errors.
C) The high mutation frequency of non-coding DNA means the project must be repeated every decade.
D) The original reference sequence captured almost none of the variations in humans.
E) Sanger sequencing has a lower error rate than next-generation sequencing.

Answer 2

D

Question 3

An assembly of the human genome would ideally consist of

A) 23 contigs
B) no repetitive DNA
C) as many contigs as possible
D) >1,000 contigs
E) no contigs

Answer 3

A

Question 4

In the context of human genome sequencing,which of the following terms is associated with the approach used by Celera,but is not associated with the publicly funded project?

A) shotgun
B) karyotype
C) physical map
D) paired-end
E) plasmid

Question 5

What is the probability that two,independent,10bp DNA sequences,are identical by chance?

A) -10⁴
B) (0.25)¹⁰
C) 10⁴
D) 0.25 × 10⁴
E) 10^-4

Question 6

The most popular way to visualize a genome assembly is through

A) a homology map
B) a GenBank
C) a RefSeq
D) a genome browser
E) a Google Genome

Question 7

Which of the following is required in both pyrosequencing and Sanger sequencing?

A) emulsion PCR
B) coated beads
C) DNA polymerase
D) luciferase
E) adapter sequences

Question 8

Which of the following statements about the Human Genome Project is true?

A) The sequence covers 99.99% of the genome.
B) The reference genome includes the sequence of more than one person.
C) The project has profoundly changed the way medicine is practiced.
D) The project cost $30 billion to complete.
E) The project was funded entirely by private companies.

Question 9

In the context of human genome sequencing,which of the following terms is associated with the approach used by the publicly funded project,but is not associated with the approach used by Celera?

A) BAC
B) STS
C) contig
D) Sanger
E) assembly

Question 10

The amount of DNA sequence in public databases doubles approximately every _____________.

A) month
B) 1.5 years
C) 3 years
D) 5 years
E) 10 years

Question 11

Genome assembly,especially in eukaryotes,is complicated by ______________.

A) UTRs
B) promoter regions
C) sequence tagged sites
D) repetitive sequences
E) coding sequences

Question 12

Which of the following is not true of a comparison between Sanger sequencing and pyrosequencing?

A) The cost per base is higher in Sanger sequencing than in pyrosequencing.
B) The length of each sequence read is lower in Sanger sequencing than in pyrosequencing.
C) Sanger sequencing is an older technology than pyrosequencing.
D) The number of parallel reactions is orders of magnitude lower in Sanger sequencing than in pyrosequencing.
E) The total output of a sequencing run (bp)is orders of magnitude lower in Sanger sequencing than in pyrosequencing.

Question 13

What is the correct workflow for pyrosequencing?

A) ligation,hybridization,light emission,amplification
B) hybridization,ligation,amplification,light emission
C) ligation,hybridization,ligation,amplification
D) ligation,hybridization,amplification,light emission
E) light emission,hybridization,amplification,ligation

Question 14

What is the advantage of emulsion PCR?

A) The accuracy of emulsion PCR is significantly higher compared to standard PCR.
B) The quality requirements of the template are lower than in standard PCR.
C) Millions of separate PCR reactions can be conducted in a single container using emulsion.
D) Read lengths can be increased almost four-fold using emulsion.
E) Pyrosequencing reactions can be performed within the emulsion.

Question 15

Approximately what fraction of the human genome codes for proteins?

A) 2%
B) 33%
C) 45%
D) 78%
E) 92%

Question 16

A RefSeq contains

A) a gene from the human genome,which must be a reference to assemblies in other species.
B) the consensus sequence for a given gene derived from sequence from all available species.
C) an arbitrary,but well-characterized,example genome for a species.
D) a genome that has been sequenced at least twice to eliminate errors.
E) a genome that has been sequenced to a minimum of 99% accuracy.

Question 17

Which of the following is most highly conserved in a comparison between distantly related species (e.g.a fish and a primate)?

A) 3'UTR
B) 5'UTR
C) protein-coding sequences
D) introns
E) intergenic regions

Question 18

The Human Genome Project began in ________ and was projected to require ________ years to complete.

A) 1985;5
B) 1985;10
C) 1990;5
D) 1990;15
E) 1980;25

Question 19

GenBank is

A) a genetic database available only to scientists in the United States.
B) a fee for service repository owned by Celera.
C) a repository for both DNA and electronic sequence data.
D) the main venture capital group for biotechnology.
E) an open-access resource established by National Institutes of Health.

Question 20

In the context of human genome sequencing,the publicly funded approach _____________ while,in contrast,Celera ______________.

A) used a whole genome shotgun strategy;used a hierarchical shotgun strategy
B) sequenced only the gene-rich regions of the genome;sequenced the entire genome
C) used a strategy that became standard;used an approach that is largely discredited
D) sequenced each chromosome from end to end;did not sequence heterochromatic regions
E) obtained a minimum tiling path;did not obtain a minimum tiling path

Question 21

Gene therapy is possible for some genes in humans at present.Which of the following are potential problems?

A) large size of genes
B) identifying the responsible gene
C) random integration of transforming DNA
D) tissue-specific gene expression
E) large size of genes,identifying the responsible gene,and tissue-specific gene expression

Question 22

Genomics is the branch of biology that

A) studies genes.
B) develops and applies mapping,sequencing,and computational tools to genomes.
C) studies model organisms.
D) studies Mendelian inheritance patterns.
E) studies evolutionary relationships.

Question 23

Homologous chromosomes in humans are usually 99.9 identical.

Question 24

Which of the following is not a question examiners consider when evaluating patentability of a product or process?

A) Is it non-obvious?
B) Is it useful?
C) Is it new?
D) Is it fully described (i.e.disclosed)?
E) Is it safe?

Question 25

The most important advantage of paired-ends is that they allow assembly of genomic regions that contain repetitive DNA.

Question 26

The output of pyrosequencing would be most different from the output of Sanger sequencing for which of the following sequences?

A) CATATG
B) ATGATG
C) CGCGCG
D) TTTTTT
E) CACACA

Question 27

An organism's genome is

A) the sequence of its genes for brain cells.
B) the sequence of its genes for the heart.
C) the DNA content of its sex chromosomes.
D) the DNA content of its mitochondrial genes.
E) the DNA content and sequence of all of its genes.

Question 28

Many ethicists support germline therapy but oppose somatic therapy.

Question 29

The highest resolution map of a genome can best be generated from

A) haplotype mapping.
B) linkage mapping.
C) sequence analysis.
D) FISH.
E) microsatellite mapping.

Question 30

Whole genome sequence assemblies are now available for more than 10000 vertebrate species.

Question 31

An STS (sequence tagged site)is a sequence found at least twice in a given genome.

Question 32

Costs to sequence a human genome have decreased from $3 billion to under $10,000.

Question 33

Paired-end sequences are defined by the presence of matching DNA sequences at the end of each molecule.

Question 34

DNA is randomly sheared during whole genome shotgun sequencing.

Question 35

Why do governments grant patents?

A) To ensure public safety.
B) To allow companies to guard secrets.
C) To provide government revenue.
D) To provide incentive for sharing information.
E) To guide industrial priorities.

Question 36

A contig is

A) a map of genetic markers that are separated by less than 1cM.
B) a map showing the order of cloned bits of DNA.
C) unique DNA sequences that serve as molecular markers.
D) sets of two or more partially overlapping cloned DNA fragments that together cover an uninterrupted stretch of a genome.
E) a segment of repetitive DNA.

Question 37

Humans have one of the largest and most complex genomes of any vertebrate.

Question 38

The Human Genome Project has six distinct objectives.Which of the following is not one of the six objectives?

A) to generate capital for the U.S.government.
B) to generate physical,genetic,and sequence maps of the human genome.
C) to sequence the genomes of a variety of organisms.
D) to consider the ethical,social,and legal challenges posed by genomic information.
E) to develop new technologies.

Question 39

How many genes have been estimated to be in the human genome?

A) 20,000-30,000
B) 4,000-6,000
C) 100,000-200,000
D) 3-4 million
E) 60,000-90,000

Question 40

Random generation of overlapping insert fragments from large clones for the purpose of sequence analysis is termed

A) digestion.
B) shotgun.
C) minimal.
D) maximal.
E) hierarchical.

Question 41

Both Sanger and pyrosequencing depend on labeled dNTPs.

Question 42

How might the information from personalized genome sequencing be unwelcome?

Question 43

In the future,genomics will allow medicine to become more reactive,rather than predictive.

Question 44

How do the outcomes of the human genome project and next-generation sequencing technology facilitate the transformation to "predictive,preventive,and personalized" medicine?

Question 45

Most human polymorphisms are associated with disease.

Question 46

What are some situations in which it would be better to use Sanger sequencing than pyrosequencing?