Biol 4340: Bioinformatics Assignment Due Wednesday 11/19/2021 *OMIM numbers are also available

Biol 4340: Bioinformatics Assignment Due Wednesday 11/19/2021 *OMIM numbers are also available

Biol 4340: Bioinformatics Assignment

Due Wednesday 11/19/2021

*OMIM numbers are also available on D2L on the instructions for the second dropbox

**Submit Part 2 (cut & paste information) in the second Dropbox on D2L

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Part 2

A family friend knows you are taking Cell Biology and has a favor to ask you. He/she (or their child) has been diagnosed with a disease that they want to know more about. They have already done a Google search and have found general info. They are looking to you to find out more details to increase their understanding. Look up the assigned disease to provide a description and explanation to your friend. Cut and paste the information you find into a file that you can submit to the Dropbox (part 2) along with your explanation to your friend (part 3). This information should include explanations at the cellular level and how the condition manifests itself (clinical symptoms).

Start by linking to OMIM, search with your assigned *MIM# and copy and save the description (not the whole thing… just the screen that includes it). Click on the orange “Clinical Synopsis” button to get a nice summary. Scroll down to find such things such as the protein involved in the disease, gene function or genotype/phenotype correlations or clinical descriptions. Copy and save a screen of info that you can find that would be interesting to your friend. Are there any allelic variations?

From here on out, you may not see all of the following items for your particular condition. Do the best you can- take screen shots to show if something wasn’t available… then find other information on the NCBI website that could be just as interesting. Keep on clicking!

At the “External Links” on the right side of the screen:

Click on “Protein”. What is the normal function of the protein involved in your disease? Copy and save this description. Note that there are often definitions of phrases used in the description available to click on.

Click on “Gene Info” and then “NCBI gene”. There is typically a summary of what the gene is and/or function. Copy and save the comment included with this page (not the whole page). You may have to click on the gene/local MIM# to find these links.

Under “Gene Info”, what are the cellular pathways (in KEGG or Reactome) associated with this condition? Save the screen that indicates this. If MARRVEL is available, click on it and see what new information can be found here.

Click on “clinical resources”. If it has “reviews” available, copy and save info that your friend would find helpful. Genetics Home Reference also can provide useful information. Click on other links to find other information that might be helpful to your friend. Are there resources available, orphan drugs available or clinical trials they could participate in?

Go back to the top of your search for your disease in OMIM and click on the gene map locus. What disorders are associated with this locus? Copy and save a screen from this link.

Back at NCBI homepage, click on the “All databases” link on the thin top banner. This takes you to where you can see the number of results from all the databases at a glance. Search for your disease and copy and save the resulting page. This screenshot is required.

Look for databases that have information available that you can use (eg. CDD, Structure, Nucleotide, SNP, BioSample) Type in your mim# to search. Copy and save the information from at least two of these databases.

Part 3

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Biology major. Summarize the information you have found in language he/she would understand but would be in more depth than what is found in a typical Google search. If I have to look up a word to know what it means, you really have not done your job! Include how the cellular mechanism can explain or connect to the symptoms of the condition the best you can.

I expect this summary to be approximately one page (not a half a page triple spaced or 5 pages single spaced) in length. Before handing in, test out your explanation. Ask one of your friends that is a LITR, PLSC, EDUC, BUSN etc. major to read it and see if they understand. Parents are also good resources for this test. Use their response to modify your explanation.

* OMIM numbers are also available on D2L on the

instructions for the second dropbox

3:00 section B

ID

MIM#

2654327

604370

2525044

606719

2370521

608089

2654576

605284

2451911

313700

2595525

254090

2366089

176670

2548391

232300

2507306

269880

2479915

300126

2520465

600116

2517546

269880

2406344

300126

2520463

600116

2411963

602544

2420861

602783

2420754

158810

2413148

600163

1:30 section A

ID

mim #

2557910

605218

2521340

134637

2495585

606719

2359256

606945

2408127

609260

2524626

603454

2399686

601928

2514813

602195

2646332

603649

2474813

261600

2402679

300257

2341829

309400

2421175

310200

2492217

120220[supanova_question]

Biol 4340: Bioinformatics Assignment Due Wednesday 11/19/2021 *OMIM numbers are also available

Biol 4340: Bioinformatics Assignment

Due Wednesday 11/19/2021

*OMIM numbers are also available on D2L on the instructions for the second dropbox

**Submit Part 2 (cut & paste information) in the second Dropbox on D2L

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Part 2

A family friend knows you are taking Cell Biology and has a favor to ask you. He/she (or their child) has been diagnosed with a disease that they want to know more about. They have already done a Google search and have found general info. They are looking to you to find out more details to increase their understanding. Look up the assigned disease to provide a description and explanation to your friend. Cut and paste the information you find into a file that you can submit to the Dropbox (part 2) along with your explanation to your friend (part 3). This information should include explanations at the cellular level and how the condition manifests itself (clinical symptoms).

Start by linking to OMIM, search with your assigned *MIM# and copy and save the description (not the whole thing… just the screen that includes it). Click on the orange “Clinical Synopsis” button to get a nice summary. Scroll down to find such things such as the protein involved in the disease, gene function or genotype/phenotype correlations or clinical descriptions. Copy and save a screen of info that you can find that would be interesting to your friend. Are there any allelic variations?

From here on out, you may not see all of the following items for your particular condition. Do the best you can- take screen shots to show if something wasn’t available… then find other information on the NCBI website that could be just as interesting. Keep on clicking!

At the “External Links” on the right side of the screen:

Click on “Protein”. What is the normal function of the protein involved in your disease? Copy and save this description. Note that there are often definitions of phrases used in the description available to click on.

Click on “Gene Info” and then “NCBI gene”. There is typically a summary of what the gene is and/or function. Copy and save the comment included with this page (not the whole page). You may have to click on the gene/local MIM# to find these links.

Under “Gene Info”, what are the cellular pathways (in KEGG or Reactome) associated with this condition? Save the screen that indicates this. If MARRVEL is available, click on it and see what new information can be found here.

Click on “clinical resources”. If it has “reviews” available, copy and save info that your friend would find helpful. Genetics Home Reference also can provide useful information. Click on other links to find other information that might be helpful to your friend. Are there resources available, orphan drugs available or clinical trials they could participate in?

Go back to the top of your search for your disease in OMIM and click on the gene map locus. What disorders are associated with this locus? Copy and save a screen from this link.

Back at NCBI homepage, click on the “All databases” link on the thin top banner. This takes you to where you can see the number of results from all the databases at a glance. Search for your disease and copy and save the resulting page. This screenshot is required.

Look for databases that have information available that you can use (eg. CDD, Structure, Nucleotide, SNP, BioSample) Type in your mim# to search. Copy and save the information from at least two of these databases.

Part 3

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Biology major. Summarize the information you have found in language he/she would understand but would be in more depth than what is found in a typical Google search. If I have to look up a word to know what it means, you really have not done your job! Include how the cellular mechanism can explain or connect to the symptoms of the condition the best you can.

I expect this summary to be approximately one page (not a half a page triple spaced or 5 pages single spaced) in length. Before handing in, test out your explanation. Ask one of your friends that is a LITR, PLSC, EDUC, BUSN etc. major to read it and see if they understand. Parents are also good resources for this test. Use their response to modify your explanation.

* OMIM numbers are also available on D2L on the

instructions for the second dropbox

3:00 section B

ID

MIM#

2654327

604370

2525044

606719

2370521

608089

2654576

605284

2451911

313700

2595525

254090

2366089

176670

2548391

232300

2507306

269880

2479915

300126

2520465

600116

2517546

269880

2406344

300126

2520463

600116

2411963

602544

2420861

602783

2420754

158810

2413148

600163

1:30 section A

ID

mim #

2557910

605218

2521340

134637

2495585

606719

2359256

606945

2408127

609260

2524626

603454

2399686

601928

2514813

602195

2646332

603649

2474813

261600

2402679

300257

2341829

309400

2421175

310200

2492217

120220[supanova_question]

Biol 4340: Bioinformatics Assignment Due Wednesday 11/19/2021 *OMIM numbers are also available

Writing Assignment Help Biol 4340: Bioinformatics Assignment

Due Wednesday 11/19/2021

*OMIM numbers are also available on D2L on the instructions for the second dropbox

**Submit Part 2 (cut & paste information) in the second Dropbox on D2L

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Part 2

A family friend knows you are taking Cell Biology and has a favor to ask you. He/she (or their child) has been diagnosed with a disease that they want to know more about. They have already done a Google search and have found general info. They are looking to you to find out more details to increase their understanding. Look up the assigned disease to provide a description and explanation to your friend. Cut and paste the information you find into a file that you can submit to the Dropbox (part 2) along with your explanation to your friend (part 3). This information should include explanations at the cellular level and how the condition manifests itself (clinical symptoms).

Start by linking to OMIM, search with your assigned *MIM# and copy and save the description (not the whole thing… just the screen that includes it). Click on the orange “Clinical Synopsis” button to get a nice summary. Scroll down to find such things such as the protein involved in the disease, gene function or genotype/phenotype correlations or clinical descriptions. Copy and save a screen of info that you can find that would be interesting to your friend. Are there any allelic variations?

From here on out, you may not see all of the following items for your particular condition. Do the best you can- take screen shots to show if something wasn’t available… then find other information on the NCBI website that could be just as interesting. Keep on clicking!

At the “External Links” on the right side of the screen:

Click on “Protein”. What is the normal function of the protein involved in your disease? Copy and save this description. Note that there are often definitions of phrases used in the description available to click on.

Click on “Gene Info” and then “NCBI gene”. There is typically a summary of what the gene is and/or function. Copy and save the comment included with this page (not the whole page). You may have to click on the gene/local MIM# to find these links.

Under “Gene Info”, what are the cellular pathways (in KEGG or Reactome) associated with this condition? Save the screen that indicates this. If MARRVEL is available, click on it and see what new information can be found here.

Click on “clinical resources”. If it has “reviews” available, copy and save info that your friend would find helpful. Genetics Home Reference also can provide useful information. Click on other links to find other information that might be helpful to your friend. Are there resources available, orphan drugs available or clinical trials they could participate in?

Go back to the top of your search for your disease in OMIM and click on the gene map locus. What disorders are associated with this locus? Copy and save a screen from this link.

Back at NCBI homepage, click on the “All databases” link on the thin top banner. This takes you to where you can see the number of results from all the databases at a glance. Search for your disease and copy and save the resulting page. This screenshot is required.

Look for databases that have information available that you can use (eg. CDD, Structure, Nucleotide, SNP, BioSample) Type in your mim# to search. Copy and save the information from at least two of these databases.

Part 3

***Submit Part 3 (1 page paper) electronically in the third Dropbox.

Biology major. Summarize the information you have found in language he/she would understand but would be in more depth than what is found in a typical Google search. If I have to look up a word to know what it means, you really have not done your job! Include how the cellular mechanism can explain or connect to the symptoms of the condition the best you can.

I expect this summary to be approximately one page (not a half a page triple spaced or 5 pages single spaced) in length. Before handing in, test out your explanation. Ask one of your friends that is a LITR, PLSC, EDUC, BUSN etc. major to read it and see if they understand. Parents are also good resources for this test. Use their response to modify your explanation.

* OMIM numbers are also available on D2L on the

instructions for the second dropbox

3:00 section B

ID

MIM#

2654327

604370

2525044

606719

2370521

608089

2654576

605284

2451911

313700

2595525

254090

2366089

176670

2548391

232300

2507306

269880

2479915

300126

2520465

600116

2517546

269880

2406344

300126

2520463

600116

2411963

602544

2420861

602783

2420754

158810

2413148

600163

1:30 section A

ID

mim #

2557910

605218

2521340

134637

2495585

606719

2359256

606945

2408127

609260

2524626

603454

2399686

601928

2514813

602195

2646332

603649

2474813

261600

2402679

300257

2341829

309400

2421175

310200

2492217

120220 [supanova_question]

Assignment # 3: Technical Definition and Description Overview Technical professionals are often

Assignment # 3: Technical Definition and Description

Overview

Technical professionals are often required to define or describe a technical object, concept or process to someone who has little knowledge or experience with it.

For example, an engineering firm might write a proposal to bid on a contract to develop a helicopter for the Defense Department; one section of the proposal would be a detailed description of the product the company proposes to develop.

Technical descriptions are used before products and processes are developed (as part of proposals and planning documents), during development (in progress reports, for instance), and afterwards (as part of marketing and promotional literature and technical support documents).

Choosing a Topic

This assignment asks you to select a product or process and write a description of it. There are two different kinds of descriptions to consider. Choose whichever one is appropriate, depending on your topic.

Note: It is a good idea to select something with which you are already familiar, so you can focus on learning how to write the description rather than focusing on both learning how to write the description and learning about the product or process!

A product description explains the features of a specific device, like a scientific instrument or computer program. Possible topics include devices that are specific to your field, or devices you use in everyday life:

Manual grass clippers

Fuel cell

Battery

Catalytic converter

Manual can opener

Your favorite computer or video game

A specific car model

A process description explains how a complex event occurs, including a mechanical process (i.e. how donuts are made) or a natural event (i.e. how lightning is produced). You can choose a process that is specific to your field, or one that people may be curious about:

How a specific drug works

How steel is made

How fuel cells work

How a computer compiles and executes a program

How your microwave works

How food products are irradiated

Note: A product or process description is not an instruction set. An instruction set provides steps a user would take in order to complete a task (for example, steps to change oil in a car). In contrast, product and process descriptions describe how something works (for example, how oil functions to cool an engine). The contrast is between how to use something and how that thing works (e.g., how to use a microwave versus how the microwave heats food). For this assignment, you should focus on how things work, not how to use them. The next assignment will ask you to focus on instructions.

Specific Requirements

Audience and Purpose

Select an audience that would be interested in learning about the process or product you explain. For example, you could assume an audience of students reading about your topic in a textbook. You could write a marketing document to persuade people to buy a product. Or, you could write a description that would be part of a proposal being sent to a potential client. In the assignment you should assume that the description is crucial to the work of your audience.

Note: In all cases, your designated audience should know significantly less about your topic than you do. You will be expected to describe clearly and define all terms.

Gathering Information

Take time to learn all you can about the product or process you select, even if you are already familiar with it. Read background information or otherwise inform yourself about the topic. List any sources in either a Works Cited or a Works Consulted section.

Contents/Organization

We will follow the textbook’s four principles of writing descriptions:

Clearly indicate the nature and scope of your description. One of the best ways to achieve this goal is to write an informative and specific title. Another might be to explicitly state the nature and scope in your introduction, if appropriate. It should not take long for the reader to understand the purpose and audience for your document.

Include an introduction to your product/process. Most instructions are general—give your reader a broad overview of your topic. Include a sentence (or longer) definition. Many introductions also include a visual.

Provide appropriate detail. This will be the “body” of your description. For products, describe each part in detail, including dimensions, materials, functions and relation to other parts. For processes, describe each step in detail. In either case, remember to make all language/discourse choices based on the audience’s level of interest, experience, and knowledge about the topic.

Write a conclusion. A conclusion will summarize the description. Often a conclusion will describe how all the previously described parts work together. You may also remind your audience how this product or process will ultimately help your audience solve a problem (or enrich their lives!).

Format

Include design features to help the reader locate information and understand the product or process better: diagrams, headings, bulleted/numbered lists and other technical communication conventions you have learned about. Include a cover page, which identifies the title, the writer, the audience, and the date. The final paper should be at least 1000 words and should be single-spaced.

Visuals

You have two options here. First, you can develop your own visuals or you can use a “reference visual,” which is a copy of a published image. If you use a published image, be sure to cite the source and discuss and modifications that image needs to fit your context. (For

example, if you’re describing how a snowblower engine works, you might use an image from the manufacturer’s website rather than drawing your own.)

Evaluation Criteria

I will evaluate the assignment according to these expectations:

Completeness

The description is complete (includes all the information requested). Additionally, the description follows Markel’s four principles for writing descriptions. The description is clear and substantial. The description provides comprehensive, specific, and precise detail. The sentence definition effectively begins the definition, and the visual enhances the description.

Format/Organization

Readers will be able to find the information they need. Design features enhance readability and accessibility. Paragraphs utilize effective topic sentences and are relatively short (125 words or fewer).

Style

The description gives specific information in efficient sentences.

Audience Adaptation

The description clearly addresses a specific audience, and it helps the audience understand the product or process.

Mechanics

Spelling grammar, and punctuation are correct.

Deadlines

Peer Review Workshop: Thursday, 10/21

Final Draft: Tuesday, 10/26

This assignment is worth 15% of your final grade.

Streit 1[supanova_question]

Assignment # 3: Technical Definition and Description Overview Technical professionals are often

Assignment # 3: Technical Definition and Description

Overview

Technical professionals are often required to define or describe a technical object, concept or process to someone who has little knowledge or experience with it.

For example, an engineering firm might write a proposal to bid on a contract to develop a helicopter for the Defense Department; one section of the proposal would be a detailed description of the product the company proposes to develop.

Technical descriptions are used before products and processes are developed (as part of proposals and planning documents), during development (in progress reports, for instance), and afterwards (as part of marketing and promotional literature and technical support documents).

Choosing a Topic

This assignment asks you to select a product or process and write a description of it. There are two different kinds of descriptions to consider. Choose whichever one is appropriate, depending on your topic.

Note: It is a good idea to select something with which you are already familiar, so you can focus on learning how to write the description rather than focusing on both learning how to write the description and learning about the product or process!

A product description explains the features of a specific device, like a scientific instrument or computer program. Possible topics include devices that are specific to your field, or devices you use in everyday life:

Manual grass clippers

Fuel cell

Battery

Catalytic converter

Manual can opener

Your favorite computer or video game

A specific car model

A process description explains how a complex event occurs, including a mechanical process (i.e. how donuts are made) or a natural event (i.e. how lightning is produced). You can choose a process that is specific to your field, or one that people may be curious about:

How a specific drug works

How steel is made

How fuel cells work

How a computer compiles and executes a program

How your microwave works

How food products are irradiated

Note: A product or process description is not an instruction set. An instruction set provides steps a user would take in order to complete a task (for example, steps to change oil in a car). In contrast, product and process descriptions describe how something works (for example, how oil functions to cool an engine). The contrast is between how to use something and how that thing works (e.g., how to use a microwave versus how the microwave heats food). For this assignment, you should focus on how things work, not how to use them. The next assignment will ask you to focus on instructions.

Specific Requirements

Audience and Purpose

Select an audience that would be interested in learning about the process or product you explain. For example, you could assume an audience of students reading about your topic in a textbook. You could write a marketing document to persuade people to buy a product. Or, you could write a description that would be part of a proposal being sent to a potential client. In the assignment you should assume that the description is crucial to the work of your audience.

Note: In all cases, your designated audience should know significantly less about your topic than you do. You will be expected to describe clearly and define all terms.

Gathering Information

Take time to learn all you can about the product or process you select, even if you are already familiar with it. Read background information or otherwise inform yourself about the topic. List any sources in either a Works Cited or a Works Consulted section.

Contents/Organization

We will follow the textbook’s four principles of writing descriptions:

Clearly indicate the nature and scope of your description. One of the best ways to achieve this goal is to write an informative and specific title. Another might be to explicitly state the nature and scope in your introduction, if appropriate. It should not take long for the reader to understand the purpose and audience for your document.

Include an introduction to your product/process. Most instructions are general—give your reader a broad overview of your topic. Include a sentence (or longer) definition. Many introductions also include a visual.

Provide appropriate detail. This will be the “body” of your description. For products, describe each part in detail, including dimensions, materials, functions and relation to other parts. For processes, describe each step in detail. In either case, remember to make all language/discourse choices based on the audience’s level of interest, experience, and knowledge about the topic.

Write a conclusion. A conclusion will summarize the description. Often a conclusion will describe how all the previously described parts work together. You may also remind your audience how this product or process will ultimately help your audience solve a problem (or enrich their lives!).

Format

Include design features to help the reader locate information and understand the product or process better: diagrams, headings, bulleted/numbered lists and other technical communication conventions you have learned about. Include a cover page, which identifies the title, the writer, the audience, and the date. The final paper should be at least 1000 words and should be single-spaced.

Visuals

You have two options here. First, you can develop your own visuals or you can use a “reference visual,” which is a copy of a published image. If you use a published image, be sure to cite the source and discuss and modifications that image needs to fit your context. (For

example, if you’re describing how a snowblower engine works, you might use an image from the manufacturer’s website rather than drawing your own.)

Evaluation Criteria

I will evaluate the assignment according to these expectations:

Completeness

The description is complete (includes all the information requested). Additionally, the description follows Markel’s four principles for writing descriptions. The description is clear and substantial. The description provides comprehensive, specific, and precise detail. The sentence definition effectively begins the definition, and the visual enhances the description.

Format/Organization

Readers will be able to find the information they need. Design features enhance readability and accessibility. Paragraphs utilize effective topic sentences and are relatively short (125 words or fewer).

Style

The description gives specific information in efficient sentences.

Audience Adaptation

The description clearly addresses a specific audience, and it helps the audience understand the product or process.

Mechanics

Spelling grammar, and punctuation are correct.

Deadlines

Peer Review Workshop: Thursday, 10/21

Final Draft: Tuesday, 10/26

This assignment is worth 15% of your final grade.

Streit 1[supanova_question]