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
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
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
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
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
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