Bioinformatics of Genomic Medicine 2018 Module 1 Lab

Lab Files

Phenotype files

Pheno1
Pheno2
Pheno3
Pheno4
Pheno5
Pheno6
Pheno7
Pheno8
Pheno9
Pheno10

VCF Files

VCF1
VCF2
VCF3
VCF4
VCF5
VCF6
VCF7
VCF8
VCF9
VCF10

Lab 1: Input a patient into PhenomeCentral

• Create an account at course.phenomecentral.org
• Create a new patient. See how consent setting change which fields in the form are shown
• Enter your favorite family into the pedigree drawing tool
• Take a patient description and enter it & the corresponding VCF file into PhenomeCentral
• Look at the top automatically predicted candidate genes. You can look them up on OMIM or google them to find out their associated diseases

Lab 3B

• Go back to courses.phenomecentral.org
• See the top matches for your patient. There should be both phenotypic and genetic similarity
• Search the various matching genes/mutations to see if they are known harmful (OMIM, ClinVar, Google)
• Contact the submitted of the other case and find your “match” within the class!