Description
Part I: Practice with Functions
Write functions to check if a string is valid for each of the following cases. Assume that the
function would be used in the following context, where we’d like to check if a string has a
particular pattern, and if so, execute a set of statements:
if is_valid_humanlocus(string):
#
Your function should return a boolean value.
a. Check to see if a string contains a valid Homo sapiens locus, e.g. 6p21.3, 11q1.4,
22p11.2. (Hint: a human locus name consists of a number between 1 and 22 or an X or
Y, p (short) or q (long) denoting a chromosomal arm, a band number, a period, and a
sub-band number). Function name: is_valid_humanlocus
(1) Add assertion statements to your script to check that your function returns true
for the following examples: ‘6p21.3′, ’11q1.4′, and ’22p11.2’. Your statements
should look like the following:
assert is_valid_humanlocus(‘6p21.3’), “Incorrect output!”
(2) Add assertions to check that your function returns false for the following
examples: ‘chr1:1000’, ‘nonsense’, and ‘2a11p’
assert not is_valid_humanlocus(‘nonsense’), “Incorrect
output!”
(3) Write two additional assertion statements that should check invalid examples and
explain why you chose them (e.g. is an element out of range, did you expect a
number here?, etc)
b. Write a new function, called is_locus_onshortarm, that checks if a human locus is
encoded on the short arm (p) of a chromosome. This function should first verify that the
provided string represents a valid locus (Hint: use the function that you wrote for part a),
and then check if it represents a local on the short arm of a chromosome.
Part II: Analyzing SNP Data
For this problem, you will analyze data from sets of single nucleotide polymorphisms (SNPs)
that commonly vary in the human population. There are two datasets, extracted from
http://23andme.com, one from the fictitious male, Greg Mendel, and the other from his wife, Lilly
Mendel.
a. The data in these files are poorly formatted; you will need a set of Python string
expressions to properly extract all of the information. Parse out the SNP id,
chromosome, position and SNPs for each row. For example the first row,
rs3094315chr1-742429(A,G) could be parsed to:
id Chr Position SNP1 SNP2
rs3094315 1 742429 A G
Hint: a dictionary for each person, each one containing 4 parallel lists (e.g. key “Chr” is
associated with a list with the chromosome values, key “Position” is associated with a list
of the position values) is a reasonable data structure for this type of data.
b. Once you’ve finished part (a), use your code to define a function called
read_SNP_file, which you then call from your main script to process both Greg and
Lilly’s data. The function should accept a string with the file name as an argument and
return a data structure with all of the individual’s SNP information. Also, add an assert
statement inside this function to guarantee that the chromosome number is valid (we’ve
only given you the data from the autosomes, so all SNPs should be on chromosomes 1-
22).
c. On Chromosome 10, find the largest region of shared SNPs between Lilly and Greg. The
answer will be in the form of a pair of genomic coordinates (Position1, Position2). Below
is an example of a region of shared SNPs (in bold). In this case, report the shared
region as (31123, 31625).
Chromosome Position Lilly Greg
10 31,000 AA AT
10 31,123 TT TT
10 31,319 AT AT
10 31,625 CC CC
10 31,779 GA CC
(Hint: if you’ve left your SNPs in genome position order in your lists, you can iterate through the
list to find stretches of SNPs that are identical)
d. The SNP_Definitions.txt file contains information about the effects of various
SNPs. Load the SNP definitions into a data structure so that you can lookup a
description given a SNP id and the bases. (HINT: use a dictionary with the SNP id as the
key)
e. Use the information you read in from SNP_Definitions.txt to identify what the
region between 22070000 and 22106000 on chromosome 9 suggest about Greg’s
chance of a heart attack (Note that the medical term used in this file for heart attack is
“myocardial infarction”). What about Lilly’s chance of a heart attack? (Hint: find the
SNPs from this region, and use the information from the ‘Description’ column to guide
your reasoning)
(If you feel bold, the use of a list comprehension would be very cool here)
f. Find a SNP locus that interests you at SNPedia.com. Describe what is known about the
locus. Also, check what the SNP status is in both Lilly and Greg. What does the SNP
suggest about their possible health?
Submit to Canvas
Code that accomplishes all the tasks in Parts I and II. Please ensure that the entire script runs
using the big green “play” button or by selecting “Run” from the “Run” menu.
A report in a text file containing:
a. The largest region of shared SNPs between Greg and Lilly
b. Information about Greg and Lilly’s respective risks for a heart attack.
c. Answers to the questions in Part II – f
