Assignment
Really important to do exactly what it asks for. put it in your own words Using online OMIM and ClinVar provide a summary for your patients with Prader-Willi syndrome.
1.Go to the Online Mendelian Inheritance in ManLinks to an external site. website
2.Select the Getting Started option
3.Enter a Prader-Willi syndrome.in the search box and select Search
4.Then you can do the same search in ClinVar or 1000 genomes.
5.https://www.internationalgenome.org/Links to an external site.
6. https://www.ncbi.nlm.nih.gov/clinvar/Links to an external site.
You want to review the entries to ensure that you are getting valuable data. Sometimes the early results are lacking a good bit of information. You are looking for an entry that will provide you with the information to complete the requirements for this assignment.
See the requirements below.
Write a brief summary of your findings and include the following:
( Include in your summery which part is which)
1.Clinical synopsis
2.Cytogenetics (Include uniparental disomy and any mutations that might cause the syndrome)
3.Pathogenesis
4.Population genetics (prevalence and risk)
5.From ClinVar include information from the top 3 variants (just a few sentences)
6.Write in a vernacular that your college-educated non-science major patient can understand.
