Entering edit mode
12 weeks ago
guoweidora
•
0
I'm trying to use the pre-imputation checks here https://www.well.ox.ac.uk/~wrayner/tools/ to check a vcf (on the hg38 assembly) on the 1000G phase 3 v5 data, which is hg19, before imputing using the MIS.
I am trying to use 1000G phase3 V5 reference to impute my hg38 genotype data. I am trying to run
perl HRC-1000G-check-bim.pl \ -b chr1.bim \ -f chr1.freq.frq \ -r 1000GP_Phase3_combined.legend \ -g -p EUR \
Which is not working since mismatch between input and ref version.
May I know if I need to liftover my data to hg19 for purpose of doing imputation in Michigan imputation server.
Please help. thanks.
Basically, you necessarily do not have to liftover your data to hg19 from hg38. You can do pre-imputation QC using TOPMed reference data instead which in hg38.