How can databases of variants be used to help pinpoint a disease-causing mutation?

Answers

Answer 1

The human gene mutation database (HGMD) is a collection of published germ-line mutations in nuclear genes that underlie , or are closely associated with human inherited disease.

For identifying the pathogenic mutation among thousands to millions of genomic variant is a major challenges and prioritization strategies are required. Current strategies for Mendelian disease gene identification by exome re-sequencing.

Next generation sequencing (NGS) has been  used to identify new pathogenic mutations and genes causing rare genetic diseases.  The analyses of NGS data is not trivial and required a technically and biologically rigorous pipeline that address the data quality , accurate variant filtration to minimize mistakes.

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Related Questions

What is the difference between colonial and multicellular organisms?

Answers

Answer:

the individual organisms that form a colony or biofilm can, if separated, survive on their own, while cells from a multicellular organism (e.g., liver cells) cannot.

The two waves are on two identical strings with the same tension. Identify which wave is high frequency and which wave is low frequency. What is the relationship of wavelength and frequency? Use the pictures to justify your answer.

Answers

(a) If the tension of the two waves is the same, the wave with higher frequency will be the wave with smaller mass per unit length.

(b) The frequency of a wave is inversely proportional to the wavelength of the wave.

Relationship between tension and frequency

The frequency of a wave in string is given as;

f ∝√T/μ

where;

f is frequency of the waveT is tension in the stringμ is mass per unit length of the string

Thus, if the tension of the two waves is the same, the wave with higher frequency will be the wave with smaller mass per unit length.

Relationship between wavelength and frequency

The relationship of wavelength and frequency is given by the following formula;

f = v/λ

where;

f is frequency of sound wavev is speed of the sound waveλ is wavelength of the sound wave

Thus, the frequency of a wave is inversely proportional to the wavelength of the wave.

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What term designates foods that contain nonnutrient substances which may provide health benefits beyond basic nutrition?

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Term designates foods that contain non nutrient substances which may provide health benefits beyond basic nutrition are called functional food .

Functional foods are foods that may have a positive effect on health beyond basic nutrition. Supporters of functional foods say that these foods can support optimal health and may help lower the risk of disease. One common example of a functional food is oatmeal.

Functional foods is the term that defines foods that contain non nutrient substances whose known action in the body is to promote well-being to a greater extent than that contributed by the food's nutrients. Functional foods provide a health benefit beyond basic nutrition, includes conventional foods, fortified, enriched, enhanced foods and dietary supplements.

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Under conditions when there is very intense competition between memebers of the same species the distribution of individuals will tend to be:____.

Answers

As the intense competition of the species are observed in clumped distribution, so the answer is distribution of individuals will tend to be clumped.

What is intraspecies competition?

The competition which  occurs between individuals of the same species  based on common need for a limited resources,  leading to a reduction in the survival and reproduction rate.

Intraspecific competition for exploitation which is an indirect type  observed when an individual consumes the available resources.

Intraspecific competition by interference observed when the individuals fight to access for other's food.

Hence, answer is clumped.

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What brain structure is responsible for raising or lowering the thresholds of conscious awareness?

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In the past, consciousness was thought to emanate from the frontal hemispheres of the brain, but current research has found that the content of consciousness mainly originates from the hindbrain.

Please Help!! URGENT! 5. Charles Darwin observed many species of finches in the Galápagos Islands. This area is made up of many small islands separated by ocean water. Each island has slightly different geography and food sources.

a) Name three reasons that this area had a high rate of speciation


b) How would the rate of speciation be different if the islands were much closer together? Explain

Answers

Isolation, Divergence and Reproductive isolation are the three reasons of higher rate of speciation.

What are the three reasons that this area had a high rate of speciation?

Isolation, Divergence and Reproductive isolation are the three reasons that this area had a high rate of speciation. Isolation of populations is the main reason of speciation. Divergence in traits of separated populations have different mating system or habitat. Reproductive isolation of populations causes the populations come into contact again and again.

How would the rate of speciation be different if the islands were much closer together?

The rate of speciation would be different if the islands were much closer together because the species can easily move from one island to another island which leads to diversification of population.

So we can conclude that Isolation, Divergence and Reproductive isolation are the three reasons of higher rate of speciation.

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In response to a steak dinner, certain secretions are needed to aid digestion. What cells in the pancreas would provide these secretions?.

Answers

Acinar cells

Yes, CCK would be activated in response to a heavy fat and protein meal, which would then drive a pancreatic secretion that is rich in enzymes.

What do Acinar cells do ?

Nearly all of the digestive enzymes required for nutrition digestion that are active in the small intestinal lumen are synthesised and secreted by pancreatic acinar cells. To ensure a sufficient supply of digestive enzymes, both synthesis and secretion are tightly controlled over short and long time scales.

The exocrine pancreas's role. The centroacinar cells and intercalated duct cells release a biocarbonate-rich buffer solution, whereas the acinar cells create, store, and release digesting enzymes.

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The facial nerve (cn vii) passes through the opening in the temporal bone called the?

Answers

The facial nerve (cn vii) passes through the opening in the temporal bone called the stylomastoid foramen.

Stylomastoid foramen:

The foramen between the styloid and mastoid processes of the temporal bone of the skull is known as the stylomastoid foramen. It serves as the facial canal's terminus and carries the facial nerve and stylomastoid artery. Bell's palsy may be brought on by facial nerve irritation in the stylomastoid foramen. An unexplained episode of facial muscular paralysis or weakening is known as Bell's palsy. Over the course of 48 hours, it gets worse suddenly.

The stylomastoid foramen is where the 7th cranial nerve leaves the skull and enters the parotid gland at its deep surface. The nerve splits into two major branches, the temporofacial branch, and the cervicofacial branch, right next to the parotid duct.

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How do the unsaturated fatty acids in phospholipids affect the structure of cell membranes?

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Unsaturated fatty acids are a component of the phospholipids in cell membranes and help maintain membrane fluidity. The Phospholipids contain a variety of unsaturated fatty acids, when compressed, the “kinks” in their tails push adjacent phospholipid molecules away, that helps in maintain fluidity in the membrane. Unsaturated fatty acids have at least one double bond, creating a "kink" in the chain, the absence of double bonds decreases fluidity, making the membrane very strong and stacked tightly.

The ratio of saturated and unsaturated fatty acids determines the fluidity in the membrane at a temperature, at appropriate temperatures the phospholipids have enough kinetic energy to overcome the intermolecular forces holding the membrane together, which increases membrane fluidity.

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A food contains 1.1 grams carbohydrates, 13 grams protein, and 11 grams fats. how many calories does the food provide?

Answers

Answer is 155.4 total calories.

Step by step.
We know Carbohydrates provide 4 calories per gram, protein provides 4 calories per gram, and fat provides 9 calories per gram.

So (1.1 x 4) + (13 x 4) + (11 x 9) = total calories.
4.4 + 52 + 99 = 155.4 total calories.

In the dna isolation process, ________ is used to break down the protein complexes and allow the dna molecules to easily precipitate.

Answers

In the DNA isolation process, ice cold 95% ethanol is used to break down the protein complexes and allow the DNA molecules to easily precipitate.

What is separation and isolation of DNA fragments?

The cutting of DNA by restriction endonucleases results in the fragments of DNA. These fragments can be separated by a technique known as gel electrophoresis.Since, DNA fragments are negatively charged molecules they can be separated by forcing them to move towards the anode under an electric field through a medium/matrix.The most commonly used matrix is agarose which is a natural polymer extracted from sea weeds.The DNA fragments separate (resolve) according to their size through sieving effect provided by the agarose gel. Hence, the smaller the fragment size, the farther it moves.The separated DNA fragments can be visualised only after staining the DNA with a compound known as ethidium bromide followed by exposure to UV radiation (you cannot see pure DNA fragments in the visible light and without staining). We can see bright orange coloured bands of DNA in a ethidium bromide stained gel exposed to UV light.The separated bands of DNA are cut out from the agarose gel and extracted from the gel piece. This step is known as elution.The DNA fragments purified in this way are used in constructing recombinant DNA by joining them with cloning vectors.

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Which enzyme will be most involved in the digestion of high protein food?
a. salivary amylase
b. pancreatic looses
c. protease
d. sucrase

Answers

Answer:

a. salivary amylase

Explanation:

salivary amylase breaks down starches (complex carbohydrates) into sugars for the body to absorb more efficiently.

The answer is
a Salivary amylase

If the concepts of feminization and masculinization apply to humans (which we cannot determine at present)...

Choices:
Masculine and feminine behaviors are purely social constructs


The concept that masculinity must be accompanied by a reduction in femininity is incorrect


The concept that femininity is unaffected by masculinity is correct


Biological behaviors associated with masculinity would also be associated with femininity

Answers

Masculine and feminine behaviors being purely social constructs is the correct choice and is denoted as option A.

What is Masculinity?

This is defined as the features and behavior which are associated with the male gender.

Women are always regarded or set up as being inferior to men in the society thereby resulting in them not having the same cultural influence as men. This depicts the both of them being social constructs and is therefore the most appropriate choice.

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five negative effects of fire?​

Answers

Answer:

Just all around is bad for the earth

Explanation:

Destroying homes.Kill or injures/destroys wildlife habitat.Pollutes the air which harmful to human health. Lung problems, heart failure, and premature death.The increase of carbon dioxide on earth contributes to the greenhouse effect and climate change.

It would be most difficult for the body to maintain homeostasis if over several days someone had an inadequate intake of:________

Answers

If someone had an inadequate intake of sodium over several days, it would be most difficult for the body to maintain homeostasis.

Why is sodium important for homeostasis?

Most of the sodium in our body is present in the extracellular fluid (ECF). The concentration of sodium in the body is measured relative to the amount of water in the body.

Maintaining proper sodium concentration is therefore essential for maintaining water balance in the body. It also helps in the proper functioning of neurons by assisting in the conduction of impulses.

Sodium concentration is also important for muscle contraction. Proper sodium concentration maintains osmolality of the extracellular fluid which maintains the volume of blood and plasma in the body.

Therefore, an inadequate intake of sodium, over several days will affect the homeostasis of the body.

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A research group is looking for a way to use spider silk, valued for its high tensile strength, to make extremely strong ropes, but spiders only produce small amounts of silk. they have isolated the gene and have inserted it into cows to produce the silk protein in their milk where the scientists can collect it in large quantities. what is this process called? a. bioreaction b. transgenics c. artificial selection d. recombination

Answers

Option (B) Transgenics is the correct answer.

Transgenics involves one or more DNA sequences being artificially introduced into an organism that wouldn't usually have them.

What is Transgenics?The term "transgenic" refers to organisms with modified genomes.For scientific investigation, most transgenic organisms are produced in laboratories. A particular gene of interest is disabled in transgenic mice called "knock-out" mice. Researchers can learn more about the normal operation of the gene by researching its consequences.It is possible to alter the genomes of living things with contemporary genetic technology. The term "genetic engineering" also applies to this method.Additionally, commercial uses for transgenic organisms have been created. Food crops like soy and peas that have undergone genetic modification to become resistant to pesticides and herbicides are probably the most well-known examples.

Hence, Transgenics entails the artificial introduction of one or more DNA sequences into an organism that wouldn't typically contain them.

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Normal human cells have ________ chromosomes while gametes have ________ chromosomes.

Answers

Answer:

Normal human cells have 46 chromosomes while gametes have 23 chromosomes.

Which part of the nephron is responsible for the greatest possible increase in urine concentration?

Answers

Bowman's capsule collecting duct loop of Henle is the part of the nephron is responsible for the greatest possible increase in urine concentration.

Maximum concentration occurs at the bottom of the loop. The ascending limb of the nephron loop is impermeable to water, but Na + and Cl – are pumped out into the surrounding fluids by active transport.

The production of concentrated urine involves complex interactions among the medullary nephron segments [5;6] and vasculature. In outer medulla, the thick ascending limbs of the loops of Henle actively reabsorb NaCl.

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The alternative pathway of complement cascade activation begins with ________ binding to the surface of a microbe. c5b c5a c3b c1 factor b

Answers

The correct answer is c3b.

The intrinsic C3 thioester bond of the alternative pathway (AP) is progressively hydrolyzed spontaneously by diverse proteins, lipids, and carbohydrate structures on microbes and other external surfaces [12–14], and this further activates the AP [1, 15]. A blue line pointing to C3 denotes the fluid-phase C3b promoting assembly of AP C3 convertase as the proposed mechanism for the reaction of properdin with a target on the foreign surface [27]. Thick red lines signify amplification mechanisms: Factor H regulates and inhibits the tick-over reaction, a gradual spontaneous activation involving C3(H2O) reacting with factor B. Properdin also promotes self-amplification in the other loop by stabilizing the C3bBb complex.

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Suppose your eyes are exposed to a microorganism, what is the first thing you should do?

Answers

If your eyes are exposed to a microorganism, the first thing you should do is to Flush your eyes with water for at least 10-15 minutes.

Proper eyelid cleanliness stops the bacterial buildup that leads to blepharitis and the potential for Demodex. Maintaining clean eyelids and lashes is also essential for safeguarding the many glands that line our eyelids and aid in the production of our tears.To allow the fluid to move across the eye, someone should flush their eye for 10 to 15 minutes while attempting to keep their eyes open.Some chemicals, such strong alkalis, may call for 60 minutes of flushing. When flushing the eye, one should make sure there are no chemicals or debris under the eyelid by looking around. They might want to get medical help after flushing.

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Muscle tone and strength usually begin to show signs of decline around the age of _____

Answers

They usually start to show signs of decline at around age 50

All sources of pollution come from human activities. please select the best answer from the choices provided t f

Answers

False.

All sources of pollution do not come from human activities.

What are the causes of pollution?

There are some natural causes of pollution. When dangerous pollutants enter the air as gases, liquids, or solids, air pollution is formed. Although there are some natural processes that can produce air pollution, such as sulfur and chlorine gases from volcanic activity, smoke and ash from wildfires, dust storms, and biological degradation, manmade sources account for the majority of pollution in the atmosphere.

Burning fossil fuels for transportation, energy, and industry produces the majority of air pollution that is caused by humans. Carbon dioxide, nitrogen oxides, sulfur dioxide, volatile organic compounds (VOCs), and particulates are typical pollutants released by fossil fuel-burning engines. In addition to particles, carbon monoxide and carbon dioxide are produced by stoves, incinerators, and open burning.

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Answer:

False

Explanation:

Pyruvate carboxylase and phosphoenolpyruvate carboxykinase catalyze reactions of gluconeogenesis that bypass the reaction of glycolysis that is catalyzed by?

Answers

Pyruvate carboxylase and phosphoenolpyruvate carboxykinase catalyze reactions of gluconeogenesis that bypass the reaction of glycolysis that is catalyzed by pyruvate kinase.

Gluconeogenesis:

The tissues of some organs, including the brain, the eye, and the kidney, use glucose as their primary or only source of metabolic fuel. Glycogen stores become exhausted during a protracted fast or intense exercise, and glucose must be created from scratch to keep blood glucose levels stable. The process through which glucose is created from non-hexose precursors such glycerol, lactate, pyruvate, and glucogenic amino acids is known as gluconeogenesis.

Glycolysis is effectively reversed during glucose synthesis. However, gluconeogenesis makes use of four distinct enzymes to skip the three highly exergonic (and essentially irreversible) phases of glycolysis. The pyruvate carboxylase, PEP carboxykinase, fructose 1,6-bisphosphatase, and glucose 6-phosphatase enzymes are specific to gluconeogenesis. Gluconeogenesis can only take place in particular tissues because these enzymes are not found in all cell types. In humans, the liver and, to a lesser extent, the renal cortex are the primary locations for gluconeogenesis.

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What hormone causes the endometrial glands to fill with glycogen and endometrial blood vessels to become more numerous?

Answers

What hormone causes the endometrial glands to fill with glycogen and endometrial blood vessels to become more numerous? Progesterone

What is endometrial glands?

Endometrial glands, also known as uterine glands, are tubular glands that are present in the functional layer of the endometrium that borders the uterus. They are lined with ciliated columnar epithelium. Throughout the menstrual cycle, their appearance changes. Because of the ovaries' release of estrogen during the proliferative period, the uterine glands seem to be lengthy. The uterine glands produce a glycogen-rich secretion and become very coiled throughout the secretory phase. As a result of increased progesterone release from the corpus luteum, this alteration is correlated with an increase in blood flow to spiral arteries. Progesterone release declines during the premenstrual phase as the corpus luteum deteriorates, which lowers blood supply to the spiral arteries. During the process of menopause, the uterus' functional layer—which houses the glands—becomes necrotic and eventually sloughs off.

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In __________ organisms, the primary function of a gene in a cell is to participate in regulating the body as a whole and not to responding to the cell's immediate environment. group of answer choices

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In Multicellular organisms, the primary function of a gene in a cell is to participate in regulating the body as a whole and not to responding to the cell's immediate environment. group of answer choices.

Multicellular organisms are composed of more than one cell, with groups of cells differentiating to take on specialized functions. Gene expression in eukaryotic cells is regulated by repressors as well as by transcriptional activators. Like their prokaryotic counterparts, eukaryotic repressors bind to specific DNA sequences and inhibit transcription. Gene expression is primarily controlled at the level of transcription, largely as a result of binding of proteins to specific sites on DNA.

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____________ develop(s) from the fusing of two separate sperm and egg at the same time that each develop into their own embryo.

Answers

Answer: Zygote


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After ovulation, the secondary oocyte is drawn from the peritoneal cavity into the uterine tube by _________

Answers

After ovulation, the secondary oocyte is drawn from the peritoneal cavity into the uterine tube by fimbriae.

Ovulation is the process by which a developed egg is released from the female ovary so that male sperm cells can fertilize it. In humans, only one egg is typically released at a time; on rare occasions, two or more may do so during the menstrual cycle. On the 14th to 16th day of the roughly 28-day menstrual cycle, the egg emerges from the ovary. The little, finger-like projections at the end of the fallopian tubes known as the fimbriae of the uterine tube, or fimbriae tube are where eggs go from the ovaries to the uterus. The ovary and fimbriae are joined.The immature ovum that forms soon after ovulation is called a secondary oocyte.Near the fibrotic end of the fallopian tube, secondary oocytes are discharged into the abdominal cavity.

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When working to diagnose a superficial bacterial infection, the procedure most likely used is a(n) ________.

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When working to diagnose a superficial bacterial infection, the procedure most likely used is a culture and sensitivity .

A culture is a test to find germs (such as bacteria or a fungus) that can cause an infection. A sensitivity test checks to see what kind of medicine, such as an antibiotic, will work best to treat the illness or infection. when bacteria's are Susceptible it means they can't grow if the drug is present. This means the antibiotic is effective against the bacteria. Resistant means the bacteria can grow even if the drug is present. This is a sign of an ineffective antibiotic. Intermediate means a higher dose of the antibiotic is needed to prevent growth.

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Muscle glycogen is resynthesized at its highest rate immediately after exercise.

a. true
b. false

Answers

Muscle glycogen is resynthesized at its highest rate immediately after exercise is true.

Why is it important to consume carbohydrates immediately after exercise?

Restocking muscle glycogen stores and starting muscle tissue repair and adaptation are crucial for a speedy recovery from prolonged exercise. It's crucial to take a carbohydrate supplement as soon as you can after working out to enhance muscle glycogen regeneration. Glucose is stored in the form of glycogen. It is made up of multiple branching long strings of glucose molecules.

In order to create ATP, which carries chemical energy and is essential for muscular contractions, the glucose must periodically break apart from the glycogen chain. Research demonstrates that eating high-glycemic (fast-digesting) carbs as soon as possible after working out is the greatest strategy to replace muscle glycogen stores.

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In better ecological news for britain, what species extinct in europe for 6,000 years was reintroduced there?.

Answers

Bison

These "woolly bulldozers" have been missing from the UK's wild for thousands of years, but a particular programme has welcomed them back.

What are Bison ?

Thanks to a ground-breaking plan to reintroduce these mammals to one of south-east England's greatest sections of ancient woodland, bison have recently made their long-awaited comeback to the UK.

Any of the two species of grazing animals that make up the genus Bison of the family Bovidae are known by the names bison, buffalo, or wisent.

Buffalo and bison are different animals even though the phrases are frequently used interchangeably. Water buffalo and Cape buffalo are two of the Old World species that are indigenous to Asia and Africa.

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Other Questions
In 2016, the CDC estimated the mean weight of U.S. women over the age of 20 years old was 168.5 pounds with a standard deviation of 68 pounds.1. What is the expected mean for a sample of 150 women?2. What is the standard deviation of the mean for a sample of 150 women?3. What is the probability of 150 women having a sample mean below 160 pounds?4. What is the probability of 150 women having a sample mean above 175 pounds?5. What is the probability of 200 women having a sample mean below 160 pounds? Note the change in sample size.6. What is the probability of 200 women having a sample mean above 175 pounds? 3. What kind of triangle is represented by the triangle shown below?IsoscelesRightO EquilateralScalene PLEASE HELP!! ill give brainliest A. ||B. C. neither they are skew lines Employees covered by the overtime provisions of the Fair Labor Standards Act are labeled a. nonexempt employees. b. salaried workers. c. protected workers. d. exempt employees. What index is used to measure the average prices paid by a typical family? what is the answer to this? Read the following excerpt from Jonathan Swift's "A Modest Proposal":I do therefore humbly offer it to public consideration, that of the hundred and twenty thousand children, already computed, twenty thousand may be reserved for breed, whereof only one fourth part to be males; which is more than we allow to sheep, black cattle, or swine; and my reason is, that these children are seldom the fruits of marriage, a circumstance not much regarded by our savages, therefore, one male will be sufficient to serve four females. That the remaining hundred thousand may, at a year old, be offered in sale to the persons of quality and fortune, through the kingdom, always advising the mother to let them suck plentifully in the last month, so as to render them plump, and fat for a good table. A child will make two dishes at an entertainment for friends, and when the family dines alone, the fore or hind quarter will make a reasonable dish, and seasoned with a little pepper or salt, will be very good boiled on the fourth day, especially in winter.I have reckoned upon a medium that a child just born will weigh 12 pounds, and in a solar year, if tolerably nursed, encreaseth to 28 pounds.I grant this food will be somewhat dear, and therefore very proper for landlords, who, as they have already devoured most of the parents, seem to have the best title to the children.How does the author's word choice in this excerpt imply a message other than the one explicitly stated? Analyze specific phrases within the excerpt and explain how they help the writing to function as satire. Support your answer with evidence from this excerpt and from your general knowledge of "A Modest Proposal." Please help i will mark the brainliest The vertices of a composite figure are given. Find the area of the figure.G(-5, -1), H(-5, 1), I(2, 4), J(5, -1), K(1, -3) Consider the function f(x) = 3x + 1 and the graph of the function g(x) shown below.A coordinate plane linear graph function shows a line intersecting Y-axis at minus 5 and X-axis at 1.5.The graph g(x) is the graph of f(x) translated units , and g(x) = a section of a circle has both endpoints on the circle. what is the section of the circle called What is a hypothesis?A. A random guessB. An educated prediction based on knowledgeC. A theoryD. A way for scientists to make up lies Which geometry or geometries are common for complexes with a coordination number of 4?. How do you think Lilys current debts impact her credit score? Factorize completely 2xy -6mn - 3m + 4nx please help me solve it Students in Patrice's English class publish an online journal of their reading. Students,parents, and teachers visit the site. Here's the beginning of Patrice's latest entry.(1) Recently, 1 read "Twenty Thousand Leagues Under the Sea." (2) At first, I didn't expect toenjoy it. (3) After all, it's over a century old. (4) But, dude, I couldn't have been morewrong! (5) The plot combines scinece fiction, travelogue, and political thriller. (6) Here's abrief summary.What revisions and edits should Patrice make for his purpose and audience?(A) In sentence 1, add the words "the novel" before the book's title.(B) Put the title of the book in italics rather than quotation marks.(C) Delete sentence 2, which is unnecessary information.(B)- In sentence 4, change the word "dude" to "people." The first moment of the total cross-sectional area taken about the neutral axis must be? Goldie+and+kurt+are+looking+at+purchasing+their+first+home.+their+credit+history+is+a+little+shaky+and+they+dont+have+enough+money+saved+to+put+down+20%.+what+type+of+loan+seems+most+appropriate? Is Aneika from yesterday here? Correct the sentence. What is the value of the expression when n = 3?StartFraction 6 (n squared plus 2) Over n EndFraction16223066 PromptWrite a short script (15-20 lines) that creates an imagined scene between two or three characters. The scene should show auniversal theme, such as "friends help and defend each other" or "fights can last a long time." Be sure to set the mood ofyour scene by using stage directions to show how characters should interact with one another.I dont necessarily need you to write it for me but Im not completely clear on the instructions and would like an example to look at because Im not sure how to correctly write a script in the right format