User Tools

Site Tools


lab_1

Differences

This shows you the differences between two versions of the page.

Link to this comparison view

Next revision
Previous revision
Last revision Both sides next revision
lab_1 [2017/04/11 14:12]
scott Created page with "<syntaxhighlight lang="shell"> ### PSYCH 3102 Behavioral Genetics ### Lab 1 -- downloading and exploring a genome ### Author: Scott Vrieze ##################################..."
lab_1 [2017/04/13 13:43]
scott /* Example commands */
Line 1: Line 1:
 +
 +====== Genotype file ======
 +
 +The genotype file is located here: https://drive.google.com/file/d/0B608ps4vtHUaWFNOWXJqZ0tDMXc/view?usp=sharing
 +
 +
 +====== Lab 1 Assignment ======
 +
 +
 +### Lab 1 assignment
 +### Assigned: 4/13/2017
 +### Due: 4/20/2017 at the beginning of class. Late assignments (even by 5 minutes) 
 +###      will not be accepted!
 +###
 +### Note: all questions should be answered with respect to the 
 +###       genotypes from hu916767_20170324191934.txt
 +
 +
 +### Question 1 (4 points)
 +### a) What does "positive strand" mean in the header of the genotype file?
 +
 +
 +### Question 2 (2 points)
 +### a) Provide a command that I can run to extract only the chromosome column of the genotype file.
 +
 +### Question 3 (2 points)
 +### a) Provide a command that I can run that extracts only the chromosome column of the genotype 
 +###    file, and pipes it to "sort -u".
 +### b) Provide the output of that command and tell me in your own words what the command did.
 +
 +### Question 4 (6 points)
 +### a) Give me a command that I can run that will extract the most 
 +###    commonly studied SNP associated with the flushing response discussed in class. 
 +### b) Interpret this individual's risk for alcoholism, the flushing response, 
 +###    esophageal cancer, and their response to Disulfiram.
 +### 
 +### Note: you will need to use your web searching abilities!
 +
 +### Question 5 (4 points)
 +### Find out more about SNP rs72921001 in dbSNP
 +### a) What is the minor allele in individuals of European ancestry? What is the MAF?
 +### b) What is the allele frequency of this allele in individuals of African ancestry?
 +### c) Is this SNP associated with any phenotypic effects?
 +### d) Describe the geographical distribution of allele frequency for this variant using
 +###    the website  http://popgen.uchicago.edu/ggv/
 +
 +
 +
 +====== Example commands ======
 +
 +
  
 ### PSYCH 3102 Behavioral Genetics ### PSYCH 3102 Behavioral Genetics
Line 110: Line 161:
 ### We can also grab both variants, if we wanted to ### We can also grab both variants, if we wanted to
 grep -E 'rs8176719|rs9430244' hu916767_20170324191934.txt grep -E 'rs8176719|rs9430244' hu916767_20170324191934.txt
 +
 +### What if we have a variant where we don't know the rsID, 
 +### but only the chromosome, position, genome build, and alleles? 
 +### Well, to get chromosome 1, position 11850759, we can do this:
 +grep -E '\s1\s11850750\s' hu916767_20170324191934.txt
 +
  
  
Line 143: Line 200:
 ### this command going to work? Why or why not? ### this command going to work? Why or why not?
 grep -E '1' hu916767_20170324191934.txt grep -E '1' hu916767_20170324191934.txt
 +
 +
 +
 +====== Useful databases ======
 +
 +
 +**Geography of Genetic Variants Browser** Interactively browse geographic distribution of genetic variants. Can compare to 1000 Genomes, ExAC, and POPRES (Euro-centric). http://popgen.uchicago.edu/ggv/?data=%221000genomes%22&chr=11&pos=6889648
 +
 +**dbSNP** A fairly exhaustive database of SNPs in humans. https://www.ncbi.nlm.nih.gov/projects/SNP/
 +
 +**ExAC** A good source for exonic variants. Very user friendly. http://exac.broadinstitute.org/
  
lab_1.txt ยท Last modified: 2017/04/25 10:49 by scott