Question: Making use of phased haplotypes in rare variant burden testing
gravatar for vlaufer
6.1 years ago by
United States
vlaufer280 wrote:

Hello all,

I have a GWAS cohort and a WGS cohort that is a subset of the GWAS cohort.

I have identified all the lead SNPs from the GWAS data (larger n) and have defined linkage disequilibrium around each lead SNP in the study.

Further, I have phased the WGS genomes. As such, I can determine the variants that are in phase, or not in phase, with the lead SNPs in the study. 

Right now, it is my intention to do this by parsing the VCF files, then reformatting into SKAT-O format. However, my question is, are there existing workflows that port phased genomes directly into any rare variant association tool, or, is one or more of these steps DIY?

For clarity, what I mean by rare variant association tools is roughly summarized by the Lee / Lin review paper in AJHG 

phasing burden ngs gwas haplotypes • 2.1k views
ADD COMMENTlink modified 6.1 years ago by brentp23k • written 6.1 years ago by vlaufer280
gravatar for brentp
6.1 years ago by
Salt Lake City, UT
brentp23k wrote:

I wrote a script to do exactly this: see:

It parses the VCF in python and sends the haplotype blocks to R using pyper ( ). It can be a start for the parsing/creating haplotypes or you can use it as-is to get p-values from SKAT.

There are a lot of methods for testing haplotypes, but I think this poster does a nice job comparing:

ADD COMMENTlink modified 6.1 years ago • written 6.1 years ago by brentp23k

Brent -

Thank you very much for sharing your code - very kind of you. I will accept this answer after a little time elapses, I do not want to discourage other answers.

Note that you have the close parenthesis as part of the hyperlink, causing the link to fail without modification.


ADD REPLYlink written 6.1 years ago by vlaufer280
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