Open hsun3163 opened 2 years ago
One of the later (2020) mQTL paper used 50kb up/down of CpG site as the cis-windows for the nominal association pvalue. https://academic.oup.com/hmg/article/29/7/1154/5803132#203353336
This info will be organized into the analysis notebook were we actually use this window.
Another paper, https://www.nature.com/articles/s41598-018-35871-w#Sec7, used a way larger window.
Firstly the cis region to the methylation probe – defined as a window 2 Mbp each side of the target CpG site location – was investigated.
Another earlier paper(2016), https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4913906/#sec016,suggests using 500kb:
To distinguish between local (cis) and distant (trans) mQTLs a distance less or equal to 500 kb between a SNP and CpG site was used to define cis-mQTLs. All remaining SNP-CpG pairs were considered trans-mQTLs. In total we found 283,290,917,454 CpG–SNP pairs in the dataset, where 112,842,462 pairs were defined to be located in cis and 283,178,074,992 in trans.
@yuqimiao please post the windows u ultimately decided to use here.
whatever we do, it should not be smaller than the previous ROSMAP xQTL release ...
As noted in point 1 here: https://github.com/broadinstitute/tensorqtl/issues/68
Before this question got answered, this ticket will document some of the cis_windows other people use, although not necessarily using TensorQTL.
Cis_window is the number of bp up/downstream of the CpG site to determine what SNPs are to be included in the nominal association estimation.