Midterm Solutions Fall 2017

PwnHero BME501/CPS501 Bioinformatics Midterm Solutions, Oct. 25, 2017 Family Name:_____________ First Name: _____________ Student Number: ____________ Answer all questions on the question pages, right below the question. No aids of any kind, including no calculators. 1. Database (20 points) (a) What is a SNP, and why is it important to bioinformatics? (3 points) Single Nucleotide Polymorphism, a change in a single nucleotde which is common to at least 1% of the population Important in bioinformatics since a SNP can sometimes be correlated with a disease. (b) What is a GWAS, and why is GWAS used for Parkinsons Disease but not Cystic Fibrosis? (3 points) Genome Wide Association Study a study where one looks accross the genome for a correlation of SNPs with disease GWAS is used for complex genetic disorders, diseases involving more than one gene, which is the case for Parkinsons Disease, but not Cystic Fibrosis which is caused by a mutation in a single gene. (c) Name three tracks that you would like to have turned on in the UCSC Human genome browser if you are investigating a SNP in a GWAS? It is okay if you do not have exact names. (3 points) some tracks of interest: gene, OMIM, SNP, Multiz, Genes and Disease, Gene expression in tissues, (d) What is OMIM and how would you use it during GWAS? (3 points) Onlne Medelian Inheritance in Man, a database that discusses diseases and genes causing them. If a SNP correlates with a disease, and if the SNP is close to or on a certain gene, then you would check in OMIM to see if that gene is known to be a factor in the disease or a similar disease. (e) Name five databases in NCBI? (5 points) some db’s in NCBI: nucleotide, protein, gene, genome, SNP, OMIM, pubmed, microarray experiments, (f) What are alleles when talking about SNPs, and what database of NCBI would most likely give you the alleles of a SNP? (3 points) 1 PwnHero.com