Intro to the qqman package

The manhattan package includes functions for creating manhattan plots and q-q plots from GWAS results. The gwasResults data.frame included with the package has simulated results for 16,470 SNPs on 22 chromosomes. Take a look at the data:

str(gwasResults)

'data.frame':   16470 obs. of  4 variables:
 $ SNP: chr  "rs1" "rs2" "rs3" "rs4" ...
 $ CHR: int  1 1 1 1 1 1 1 1 1 1 ...
 $ BP : int  1 2 3 4 5 6 7 8 9 10 ...
 $ P  : num  0.915 0.937 0.286 0.83 0.642 ...

head(gwasResults)

  SNP CHR BP      P
1 rs1   1  1 0.9148
2 rs2   1  2 0.9371
3 rs3   1  3 0.2861
4 rs4   1  4 0.8304
5 rs5   1  5 0.6417
6 rs6   1  6 0.5191

tail(gwasResults)

          SNP CHR  BP      P
16465 rs16465  22 530 0.5644
16466 rs16466  22 531 0.1383
16467 rs16467  22 532 0.3937
16468 rs16468  22 533 0.1779
16469 rs16469  22 534 0.2393
16470 rs16470  22 535 0.2630

How many SNPs on each chromosome?

as.data.frame(table(gwasResults$CHR))

   Var1 Freq
1     1 1500
2     2 1191
3     3 1040
4     4  945
5     5  877
6     6  825
7     7  784
8     8  750
9     9  721
10   10  696
11   11  674
12   12  655
13   13  638
14   14  622
15   15  608
16   16  595
17   17  583
18   18  572
19   19  562
20   20  553
21   21  544
22   22  535

Creating manhattan plots

Now, let's make a basic manhattan plot.

manhattan(gwasResults)

We can also pass in other graphical parameters. Let's add a title (main=), reduce the point size to 50%(cex=), and reduce the font size of the axis labels to 80% (cex.axis=):

manhattan(gwasResults, main = "Manhattan Plot", cex = 0.5, cex.axis = 0.8)

Let's change the colors and increase the maximum y-axis:

manhattan(gwasResults, col = c("blue4", "orange3"), ymax = 12)

Let's remove the suggestive and genome-wide significance lines:

manhattan(gwasResults, suggestiveline = F, genomewideline = F)

Let's look at a single chromosome:

manhattan(subset(gwasResults, CHR == 1))

Let's highlight some SNPs of interest on chromosome 3. The 100 SNPs we're highlighting here are in a character vector called snpsOfInterest. You'll get a warning if you try to highlight SNPs that don't exist.

str(snpsOfInterest)

 chr [1:100] "rs3001" "rs3002" "rs3003" "rs3004" "rs3005" ...

manhattan(gwasResults, highlight = snpsOfInterest)

We can combine highlighting and limiting to a single chromosome:

manhattan(subset(gwasResults, CHR == 3), highlight = snpsOfInterest, main = "Chr 3")

A few notes on creating manhattan plots:

• Run str(gwasResults). Notice that the gwasResults data.frame has SNP, chromosome, position, and p-value columns named SNP, CHR, BP, and P. If you're creating a manhattan plot and your column names are different, you'll have to pass the column names to the chr=, bp=, p=, and snp= arguments. See help(manhattan) for details.
• The chromosome column must be numeric. If you have “X,” “Y,” or “MT” chromosomes, you'll need to rename these 23, 24, 25, etc.
• If you'd like to change the color of the highlight or the suggestive/genomewide lines, you'll need to modify the source code. Search for col="blue", col="red", or col="green3" to modify the suggestive line, genomewide line, and highlight colors, respectively.

Creating Q-Q plots

Creating Q-Q plots is straightforward - simply supply a vector of p-values to the qq() function. You can optionally provide a title.

qq(gwasResults$P, main = "Q-Q plot of GWAS p-values")