how could the researcher examine the data already gathered to try to find the disease gene, assuming the exome sequence is accurate?

Answers

Answer 1

Usher syndrome is a rare genetic condition that is primarily characterized by deafness as a result of the impaired transmission of sensory input to the brain by the inner ear and auditory nerves, along with retinitis pigmentosa (RP), which eventually results in retinal degeneration and progressive vision loss, eventually leading to legal blindness. Deafness caused by the sensorineural nerve may be progressive or minor. The visual impairment brought on by RP may start in childhood or later in adulthood, and it frequently manifests itself at first as trouble seeing at night or in dim light (night blindness).

(a) If the sequence is correct, the researcher looks for possible trans-heterozygosity cases in the data already collected to try to identify the diseased gene; in other words, they look at the genes to see if both alleles are mutant but in different ways.

(b) The possible pitfall of this approach is that, outside of the coding areas, it can be challenging to know what to look for throughout the entire genome.

The question is incomplete. The complete question is;

A researcher sequences the whole exome of a patient suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause of simultaneous deafness and blindness. The exome sequence does not show homozygosity for any poly- morphisms different from the human RefSeq.

a) How could the researcher examine the data already gathered to try to find the disease gene, assuming the sequence is accurate?

b) If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing the patient's whole genome. What are the potential pitfalls of this strategy?

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Related Questions

Coral reefs look like they are made of rocks. They are actually made of animals. The animals are tiny.

Answers

Coral reefs are huge underwater structures composed of the skeletons of colonial marine invertebrates called coral.

The coral species that constructed reefs are known as hermatypic, or "hard," corals because they draw out calcium carbonate from seawater to produce a hard, durable exoskeleton that safeguards their soft, sac-like body.

Other species of corals that are not intricated in reef-building are known as soft corals. These types of corals are pliable organisms often similar to plants and trees and comprise species such as sea fans and sea whips.

Each coral is referred to as a polyp. Coral polyps thrive on the calcium carbonate exoskeletons of their ancestors, putting their exoskeleton to the existing structure.

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how does the central nervous system integrate incoming information

Answers

Answer:

Explanation:

The brain and the spinal cord make up the central nervous system. The nervous system is the most complex and highly organized body system. It receives information from the sensory organs via nerves, transmits the information through the spinal cord, and processes it in the brain.

Via Nerves

Through the spinal cord and nerves, it carries information from the sensory organs to the brain, where it is processed.

Protists include?

a. yeasts and molds.
b. algae and protozoa.
c. helminths.
d. all of these choices are correct.

Answers

Protists consist of algae and protozoa. accurate choice is b. algae and protozoa. Algae are plant-like organisms that may be both unicellular or multicellular, and derive electricity through photosynthesis.

Protozoa are unicellular organisms with complicated mobileular structures; maximum are motile. Microscopic fungi consist of molds and yeasts. Helminths are multicellular parasitic worms. In the protist kingdom, there are important groups: protozoa (which might be normally heterotrophic) and algae (which might be normally autotrophic).

The essential distinction among protozoa and algae is that protozoa are heterotrophic, at the same time as algae are autotrophic. This manner that protozoa ought to locate and ingest their meals from their environment, at the same time as algae are photosynthetic and are capable of make their personal meals.

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cellulose is not highly branched because it ________.

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Cellulose is not highly branched because it does not have alpha(1-->6) linkages.

Long chains of monosaccharides connected by glycosidic linkages are known as polysaccharides. Glucose makes up starch, glycogen, and cellulose, three significant polysaccharides. In plants and animals, respectively, starch and glycogen serve as temporary energy reserves. Glycosidic linkages bind together the glucose monomers.

A linear polymer glucan, cellulose is made up of over 100,000 glucose units connected by -beta (1-4)-glycosidic bonds. The cellulose chain's regular arrangement of hydroxyl groups causes the formation of H-bridges, which results in a fibrillar structure with crystalline properties.

Hydrogen bonds are used to bind the parallel-arranged cellulose molecules together. When combined with other cellulose molecules, these long, cable-like structures create the robust support structure.

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compared with cells that are surrounded by a lipid membrane, viruses . . . choose one:a. may be surrounded by a membrane synthesized by viral proteins.b. may be surrounded by a membrane derived from the host cell.c. are also always surrounded by a lipid membrane.d. are never surrounded by a lipid membrane.

Answers

Not even all viruses have an envelope-like membrane surrounding the capsid. Viruses do have a wall outside of the capsid, but it originates from the host.

What do viruses possess?

A virus's outer layer is formed of a nutrient coat that serves as the nucleus of its mitochondrial Genome, either RNA or Genetic material. The second spikey coat of the mailbox is occasionally seen around the virus. Viruses are able to attach to and enter new hosts.

How do viruses become made?

It's probable that mobile genetic elements that had the ability to move between cells gave rise to viruses. They might be related to organisms that were once free-living but later switched to a parasitic mode of reproduction. It's possible that viruses existed before cellular life developed and helped to shape it.

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During photosynthesis, the energy used to pump protons comes from ___________, whereas in cellular respiration it comes from _____________.

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During photosynthesis, the energy used to pump protons comes from ______light_____, whereas in cellular respiration it comes from ______NADH/FADH₂_______.

What are the steps in photosynthesis?The first step in photosynthesis is the absorption of light by chlorophyll bound to chloroplast thylakoid proteins. The absorbed light energy is used to remove electrons from electron donors such as water to form oxygen.The electrons are then transferred to the primary electron acceptor, quinine (Q.). Electrons are further transferred from the primary electron acceptor to the final electron acceptor (usually NADP⁺).Proton transfer from the thylakoid lumen to the stroma via the F₀F₁ complex generates ATP from ADP and Pi.The NADP and ATP produced in steps 2 and 3 provide the energy, and the electrons power the process of reducing the carbon to a six-carbon sugar molecule.

The first three steps of photosynthesis, are directly dependent on light energy and are thus, called light reactions, while the reactions in the last step are independent of light and thus are termed dark reactions.

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what percentage of offspring will have a homozygotes dominate dominant genotype?
0 percent
100 percent
25 percent
50 percent

Answers

Answer:

100 percent

Explanation:

explain transformation of force​

Answers

Answer:

THE TRANSFORMATION OF FORCE FROM A SYSTEM (S) WHERE A PARTICLE IS MOVING AT A SPEED (V) TO ANY SYSTEM (S) WHOCH IS MOVING RELATIVE SYSTEM. I HOPE THIS IS HELPFUL.

in bacteria, a partially diploid strain may result from . . . choose one or more:a.acquisition of an f' factor.b.natural transformation (not electroporation).c.acquisition of f factor.

Answers

In bacteria, a partially diploid strain may result from acquiring an F' factor and specialized transduction.

Specialized transduction and the acquisition of an F' factor lead to the emergence of a partly diploid strain in bacteria. Due to this, some of the bacteria's genetic components can exist in duplication (2 copies) (Chromosomes). One of those copies can be discovered on the bacteria's chromosome, while the other copy can be found in its plasmid.

Merodiploids are bacteria that have been found to have the partial diploid strain.

A genetic mechanism called specialized transduction allows genes to be transferred between bacteria. The F factor is also a plasmid that encourages bacteria to conjugate with one another and exchange genetic material.

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which statement characterizes commensalism?

a) both organisms are negatively affected.
b) one organism benefits while the other organism experiences harm.
c) one organism benefits while the other organism is not affected.

Answers

Answer:

c) one organism benefits while the other organism is not affected.

One organism benefits while the other organism is not affected

2 liters of 2% sucrose solution from 10% concentrated stock solution

Answers

In order to get 2 liters of 2% sucrose solution from 10% concentrated solution, 0.4 liters of the stock would be taken and diluted with 1.6 liters of water.

Dilution

The problem here is that of a simple dilution. The dilution principle affirms that the number of moles before and after dilution must be constant.

[tex]m_1v_1[/tex] = [tex]m_2v_2[/tex]

where:

[tex]m_1[/tex] = initial concentration or concentration of the stock solution.

[tex]m_2[/tex] = final concentration or concentration of the diluted solution.

[tex]v_1[/tex] = initial volume or volume of the stock solution to be diluted.

[tex]v_2[/tex] = final volume or volume of the diluted solution

In this case:

[tex]m_1[/tex] = 10%

[tex]m_2[/tex] = 2%

[tex]v_2[/tex] = 2 liters

[tex]v_1[/tex] = [tex]m_2v_2/m_1[/tex]

    = 2 x 2/10

     = 0.4 liters

Thus, 0.4 liters of the 10% stock solution would be taken and diluted up to the 2 liters mark (by adding 1.6 liters of water) to make a 2% solution.

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Why does a shaved camel standing in the sun require more water than an unshorn camel?.

Answers

In order to lower the bog, sweat essentially cools the air around the body as it evaporates. The shaved camel needs more water because it dries out more quickly than an onshore camel.

What justifies the process of evaporation?

The process of evaporation causes a liquid to become a gas. The phenomenon is easy to visualize when raindrops "vanish" on a hot day and when wet clothing dry in the sun. In these situations, the liquid water isn't truly dissipating; instead, it's evaporating into such a gas known as the water vapor. We experience global evaporation.

Why is it called evaporation?

Evaporation occurs on surfaces. Evaporation is a surface phenomenon because it occurs when molecules with higher kinetic energy from the top layer of the liquid escape into the air.

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The trend for women to delay childbirth until their late 20s or early 30s has ___________ while the peak years for female fertility are ____________.

Answers

While the peak years for female fertility are declining, the trend for women to put off having children until their late 20s or early 30s has a high fertility rate.

Is childbirth more difficult in your 30s?

After you reach your mid-30s, pregnancy is something to think about more. Women who are older have a higher risk of miscarriage or stillbirth. They are more likely to experience preeclampsia, gestational diabetes, and to give birth to a very little child.

When do women start having children?

The prime reproductive years for women are from their late teens to late 20s. Age 30 marks the onset of a reduction in fertility (the capacity to become pregnant). Once you're in your mid-30s, this drop accelerates.

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when the viral dna is incorporated into the host cells chromosome the viral dna is referred to as a

Answers

when the viral DNA  is incorporated into the host cells chromosome the viral DNA is referred to as a capsid

what is virus ?

A virus is a connecting link between living and nonliving organism, depend on living host cell for their survival, a chain of nucleic acids (DNA or RNA) which and use different parts of the cellular machinery to reproduce, and releases the replicated nucleic acid chains

A virus has a protein coat or protein envelope, which allows the virus to survive between hosts act as a protective covering, do not have cells and lack a cell wall .

it is surrounded by  protein coating called the capsid, genetic element present and is characterized by the evolution of the virus and the host.

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Drag each tile to the correct location.
Sort the statements based on whether they describe DNA replication in eukaryotes or prokaryotes.
Replication takes place in
the nucleus.
Replication happens at just
one point on the chromosome.
There is only one origin of
replication.
Replication takes place
in the cytoplasm.
Prokaryotes
G
There are multiple origins
of replication.
Replication occurs at multiple
points along the chromosome.
Eukaryotes

Answers

The nucleus is where replication occurs in eukaryotes. Replication has several different origins. Along the chromosome, replication takes place several times. Prokaryotes replicate within their cytoplasm. Only one location on a chromosome experiences replication. There is just one origin for replication.

The process of DNA replication, which is managed by the enzyme DNA polymerase, involves the genetic material of a cell—in this case, the DNA—making a perfect copy of itself. In comparison to bacteria, which replicate at a pace of about 500 nucleotides per second, mammals replicate at a rate of about 50 nucleotides per second.

Prokaryotic DNA replication happens through a single origin of replication, whereas eukaryotic DNA replication occurs through numerous replication origins. This is the primary distinction between prokaryotic and eukaryotic DNA replication.

Thus, we can conclude that the location, complexity, and size of the cell have a role in the differences between DNA replication in prokaryotic and eukaryotic cells.

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Which of the following physical features would characterize an area that has low access to freshwater or limited rainfall?
O Dry
O Wet
O Cold
O Mountainous

Answers

Answer:  O Dry

Explanation:

Answer:

The answer would be dry.

Explanation:

It would be dry because, let’s say it was the desert… the dessert does not get much rainfall. Also it has barely any access to freshwater


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The nervous tissue outside of the central nervous system composes the ________ nervous system.

Answers

The nervous tissue outside of the central nervous system composes the peripheral nervous system.

Nervous tissues are the tissues found in the brain, spinal cord and also the nerves. There are two main types of cells in the nervous tissue: nerve cells and glial cells. Their function is to regulate all the body functions by the receiving and transmission of signals.

Peripheral nervous system is a type of nervous system which is further subdivided into: autonomic nervous system and somatic nervous system. The components of peripheral nervous system are the nerves that branch off from the spinal cord and extends to the whole body.

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You are studying a drug that blocks translation in bacteria. You want to know more about its mechanism of action. You treat bacteria with the drug and isolate mrnas with their associated proteins from the treated bacteria. In bacteria treated with the drug, you find that small ribosomal subunits are bound to the mrnas, but not the large subunits. In which stage does this drug arrest translation?.

Answers

According to the study, the drug arrest translation of proteins in the initiation stage. Thus, the correct option is A.

What is Translation?

Translation is the process of formation of proteins from the mRNA which is synthesized by the DNA in the nucleus of cell. Here, the drug which blocks translation in bacteria and the small ribosomal subunit (30S) binds to the mRNA but not the large ribosomal subunit (50S). So we can say that large ribosomal subunit binds to mRNA after the formation of the 30S initial complex. However, if it was treated with the drugs such as (clindamycin, macrolides, etc) in the translation process then this drug bind to the large ribosomal subunit (50S) and blocks the peptide bond formation between the amino acid and thus stop the initiation step of the translation.

So, we can say that if we use the drug in the bacterial translation process then the drug bind to the large ribosomal subunit and stop the initiation step of the translation.

Therefore, the correct option is A.

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Your question is incomplete, most probably the complete question is:

You are studying a drug that blocks translation in bacteria. You want to know more about its mechanism of action. You treat bacteria with the drug and isolate mrnas with their associated proteins from the treated bacteria. In bacteria treated with the drug, you find that small ribosomal subunits are bound to the mrnas, but not the large subunits. In which stage does this drug arrest translation?

A. Initiation

B. Elongation

C. Termination

what is the term that refers to the way the muscle fibers grow within the bundle?

Answers

The proper term would be the “grain”

Some researchers suggest that ______ molecules were the first information molecules formed on early earth.

Answers

Answer: RNA

Explanation:

The RNA world hypothesis suggests that life on Earth began with a simple RNA molecule that could copy itself.

the diagram shows a beaker of water and molecules of black dye at the beginning of an experiment (time 1) and the same beaker of water and molecules of black dye after 30 mins (time 2)

a. b. molecules of water moved by osmosis from a lower solute concentration to a higher solute concentration
b. a, molecules of black dye moved by diffusion from a lower solute concentration to a higher solute concentration
c. d, molecules of water moved by osmosis from a higher solute concentration to a lower solute concentration
d. a, molecules of black dye by diffusion from a higher solute concentration to a lower solute concentration

Answers

Answer: D

Explanation:

If the size of an ecosystem decreases because of a hurricane, how are the organisms living in the ecosystem affected?
A. The carrying capacity of the ecosystem increases because there are more resources, decreasing competition among organisms.
B. The carrying capacity of the ecosystem decreases because there are more resources, decreasing competition among organisms.
C. The carrying capacity of the ecosystem decreases because there are fewer resources, increasing competition among organisms.
D. The carrying capacity of the ecosystem increases because there are fewer resources, decreasing competition among organisms.

Answers

If the size of an ecosystem decreases because of a hurricane, then the organisms living in the ecosystem are affected since the carrying capacity of the ecosystem decreases because there are fewer resources, increasing competition among organisms (Option C).

What is the carrying capacity of the ecosystem?

The carrying capacity of the ecosystem makes reference to the ability to support a given number of organisms and populations in a particular region.

Therefore, with this data, we can see that the carrying capacity depends on the ability to have resources in an ecosystem.

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During adaptation to lower temperatures, an organism may increase its production of lipids with less saturated acyl chains.

a. True
b. False

Answers

It is wrong, because lipids are formed with more saturated acyl chains. During adaptation to low temperatures, organisms may increase the production of lipids with more saturated acyl chains. So it's false.

As temperature decreases, the composition of membrane lipids (phospholipid fatty acids) is expected to become more unsaturated to maintain homeostasis. Although they differ in function, storage lipids (triacylglycerol fatty acids) are expected to respond to temperature changes in a similar manner.

When saturated fatty acids are compressed by a drop in temperature, they are compressed together to form a dense and fairly hard membrane. When unsaturated fatty acids are compressed, their terminal 'kinks' displace adjacent phospholipid molecules, maintaining membrane fluidity.

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1. What is the color of the following plant pigments? which wavelengths do they absorb?.

Answers

The yellow-green pigment chlorophyll A absorbs light between the wavelengths of 430 and 662 nm.

How does chlorophyll affect the body?

Chlorophyll, according to supplement manufacturers, has a variety of benefits, including increasing red blood cells, aiding in weight loss, healing damaged skin, removing toxins, reducing inflammation, and preventing cancer. Although the list seems impressive, only a small portion of the claims are supported by research.

Why is green chlorophyll green?

The electromagnetic spectrum's blue and red halves are where chlorophyll absorbs light with the greatest intensity. The green color of tissues containing chlorophyll results from the fact that it is a poor absorber of the green and near-green regions of the spectrum.

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Is O2 (oxygen gas) a molecule
Is H2O (water) a molecule
Is N2 (nitrogen gas) a molecule
Is CO2 (carbon dioxide gas) a molecule
Is CH4 (methane gas) a molecule
this is 5th grade science btw!

Answers

they’re all molecules because molecules are groups of atoms bonded together

A bacterial infection of the lining or valves of the heart is known as bacterial.

Answers

Inflammation of the inner lining of the heart's chambers and heart valves is known as endocarditis (endocardium). A bacterial infection is to blame.

A bacterial infection of the heart's inner layer or its heart valves is known as bacterial endocarditis. There are four heart valves. These valves facilitate the passage of blood from the heart and lungs to the rest of the body. These valves could malfunction in a person with bacterial endocarditis.

The heart may have to work harder, as a result, to pump blood to the body. The heart occasionally struggles to pump enough blood. A dangerous condition called bacterial endocarditis occasionally results in death.

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How are humans classified within a food chain

Answers

Humans are classified within the food chain because we consume both plants and animals and they can occupy any of the 3 levels. They can be primary consumers when they eat plants, secondary consumers as well as tertiary consumers when they eat meat

How are humans classified within a food chain:

Humans are secondary consumers within the food chain

[ 2.2 on the Trophic level ]

Explanation:
They obtain their food from producers (plants) and other animals (herbivores and consumers)

what is an index fossil? group of answer choices a marker used to determine the age of a geological layer the ideal specimen of that species that all later descriptions must refer to the type specimen of a species a fossil found in a particular site

Answers

An index is a fossil use to categories a stratigraphic layer.

What is index fossil ?

Geological periods are identified using index fossils. The term "commonly found, widely distributed fossils that are limited in time span" can be used to describe these fossils. One can estimate the age of a layer if they discover an index fossil in it. The geological eras are identified by using index fossils.

Index fossils are the remains of organisms that lived briefly and widely, leaving behind a large number of fossils. Scientists can match rock layers using index fossils. The age of two rock layers that contain the same index fossil but are located in different locations is similar.

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1. Which of the following is the main processing center for the entire nervous system?
a) central nervous system
b) somatic nervous system

Answers

The central nervous system

What happens when human DNA is inserted into a bacterial plasmid?

Answers

Answer:

creates a so-called recombinant plasmid

Researchers can insert DNA fragments or genes into a plasmid vector, creating a so-called recombinant plasmid. This plasmid can be introduced into a bacterium by way of a process called transformation. Then, because bacteria divide rapidly, they can be used as factories to copy DNA fragments in large quantities.

What is inserting a human gene into a bacterial plasmid?

Recombinant DNA is a technology scientist developed that made it possible to insert a human gene into the genetic material of a common bacterium.

What is it called when DNA is inserted into a plasmid?

In a typical cloning experiment, researchers first insert a piece of DNA, such as a gene, into a circular piece of DNA called a plasmid. This step uses restriction enzymes and DNA ligase and is called ligation.

Thus, by inserting human DNA into a bacterial plasmid, bacteria divide rapidly and they can be used as factories to copy DNA fragments.

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which atmospheric layer contains the protective ozone layer? exosphere stratosphere thermosphere troposphere miguel recently took a series of action shots at a local rodeo that he attended. unfortunately, he did not use a fast-enough shutter speed. what was likely the outcome of this mistake? What factors in Salvador Allendes life influenced this leader to do the different things he did? The coming of the _____On Pentecost marks the beginning of the church . A summer camp is organizing a hike and needs to buy granola bars for the campers. The granola bars come in small boxes and large boxes. Each small box has 12 granola bars and each large box has 18 granola bars. The camp bought a total of 15 boxes that have 240 granola bars altogether. Write a system of equations that could be used to determine the number of small boxes purchased and the number of large boxes purchased. Define the variables that you use to write the system. Is Thanksgiving mostly about food for you or is it more than that? 6w - 13w - 18 = -81 Solve for w.Simplify your answer as much as possible. 8. How might this painting have affected American colonists?*its 8 men shooting at people1 pointShowed the illegal actions of the Bostonians, angering people at the rebelsConfirmed how the British would react to a revolt, causing colonists' to be afraid to revoltConfirmed the strength of the British soldiers, increasing support for the BritishShowed the overreaction of the British, causing more people to want to revolt HELP!! Will give brainiest the mass of 4 atoms of c is less than the mass of 3 atoms of element d. which element has more atoms/gram? A capacitor is connected into a 1250v 1000hz circuit. The current is 80A. What is the capacitance of the capacitor to a concentrated buffer of ph 9.0 was added an equal volume of an aqueous solution that was 0.20 m in each of the ions ca2 , cd2 , and cu2 . the expected precipitate would consist of: Lisa collected leaves from different trees for a science project. Every day for a week (7 days), she collected 7 leaves. How many leaves did she collect by the end of the week? there are two reasonable approximations to consider for the pencil in this problem: a cylinder and a thin rod. however, in this problem we will treat the pencil as a uniform thin rod of length 15.0 cmcm and mass 10.0 gg . What makes Lucy so important in The Room With A view?HELP PLEASE I need at least 5 sentences ASAP HELP!!over the summer,for every 11 okra seeds dana planted,6 grew into plants,if he planted 143 okra seeds,how many grew into plantsA:138B:63C:78D:262 FILL IN THE BLANKS WITH CORRECT PREPOSITIONS 1. Betty asked Barney for help, but it turned out he was even worse ______ playing football. 3. Most men are not very fond _______going to wedding parties. 4. This brand of cream is better ______ preventing wrinkles on your face. 5. Like many other children, my daughter is mad _____ chocolate. 6. Students are sometimes taught things that they are not interested ______ at all. 7. When Tom was a schoolboy, he was crazy _______ cars and he kept drawing them in his drawing book. 8. Why should I be scared ______ ghosts? They don't exist. 9. Norman was dying _____a cigarette but he was determined to give it up. 10. Walter is not mean; he is just very careful ________ money. In "Counterpoint: Lewis and Clark Were Too Focused on IndividualSuccess," how effectively does the author's use of headings servethe purpose of the text?A. The author's use of headings in the "Counterpoint" section effectively organizes the paragraphs into a structured and easy-to-follow response to the arguments made in the "Point" section.B. The author's use of headings in the "Counterpoint" section partiallyengages the reader through exciting and witty titles for each supporting paragraph.C. The author's use of headings in the "Counterpoint" section summarizes the content of the argument so that the reader can skip over paragraphs that are uninteresting.D. The author's use of headings in the "Counterpoint" section divides the information in the text into easily digestible ideas for the contemporaryreader Tests that attempt to deal with experiences common to all persons who take them are called. . if the federal reserve were to sell treasury securities as part of its open market operations, it would be most effective at resolving which of the following economic problems? a. deflation b. high unemployment c. severe recession d. high inflation