Unknown output in .ped with plink2 --extract
0
0
Entering edit mode
9.9 years ago

I'm trying to extract the alleles for each of the SNPs in a dataset I have, using the following plink2 command.

./plink2 --bfile chr1 --recode --extract snp.dat --out snp --noweb

I find that instead of two alleles for each subject, I have more than one e.g. "TC".

75 VS9 0 0 1 -9 T T
76 VS7 0 0 2 -9 TC T
77 VSS 0 0 1 -9 T T
78 VSJ 0 0 1 -9 T T
79 VSD 0 0 2 -9 T T
80 VSG 0 0 2 -9 T T
81 VRY 0 0 2 -9 T T
83 VTI 0 0 2 -9 T T
84 VS4 0 0 2 -9 T T
85 VUR 0 0 2 -9 T T
86 VUT 0 0 2 -9 T T
87 VUQ 0 0 2 -9 TC T
88 VUP 0 0 2 -9 T T

Can anyone tell me what is going on here?

SNP plink2 • 2.9k views
ADD COMMENT
0
Entering edit mode

insertion ?

Look at dbSNP to be sure.

ADD REPLY
0
Entering edit mode

Can you explain what insertion means in this case? I'm computer science, and new to this. Cheers.

ADD REPLY
0
Entering edit mode

In the reference population, you normally have a T at this position. But in some individuals, a C is added between the T and the next allele. So at the end you have one extra base.

http://en.wikipedia.org/wiki/Insertion_%28genetics%29

ADD REPLY
0
Entering edit mode

Thanks.

When performing a GWAS, how are such insertions usually treated?

ADD REPLY
0
Entering edit mode

I'm not sure, but I guess you could use it as a normal SNP.

ADD REPLY

Login before adding your answer.

Traffic: 1729 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6