Why there is zero type 1 SNPs in impute2 when using two reference panels?
I am using impute2 to impute the genotype of a GWAS data with two reference panels, 1000GP and a WGS panel.
impute2 -use_prephased_g -m genetic_map_chr22_combined_b37.txt -h 1000GP_Phase3_chr22.hap.gz wgs_chr22.impute.hap -l 1000GP_Phase3_chr22.legend.gz wgs_chr22.impute.legend -int 45000001 5e+07 -buffer 500 -known_haps_g gwas_chr22.haps.gz -o chr22.set10_seq.gprobs -i chr22.set10_seq.metrics -os 0 2 -o_gz -verbose
The "data processing" says, for panel 1 (WGS), impute2 "reads 66404 SNPs in the analysis interval+buffer region
--excluded 60027 SNPs, leaving 6377 SNPs for analysis."
But in the "data summary", it says "0 type 1 SNPs."
Does "type 1" refer to SNP in Panel 1 ONLY? Does it mean that Panel 1 does not contribute to the imputation? The 6377 SNPs all go into the "5439 type 2 SNPs" (SNP in Panel 2 and all ref panels)? I appreciate any suggestions.
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Input files
-------------
Panel 0 haplotypes: 1000GP_Phase3_chr22.hap.gz
Panel 0 hap legend: 1000GP_Phase3_chr22.legend.gz
Panel 1 haplotypes: wgs_chr22.impute.hap
Panel 1 hap legend: wgs_chr22.impute.legend
Panel 2 known haps: gwas_chr22.haps.gz
genetic map: genetic_map_chr22_combined_b37.txt
-----------------
Data processing
-----------------
-reading genetic map from -m file
--filename=[genetic_map_chr22_combined_b37.txt]
--read 10367 SNPs in the analysis interval+buffer region
-reading Panel 2 haplotypes from -known_haps_g file
--filename=[gwas_chr22.haps.gz]
--detected 3688 individuals
--read 7232 SNPs in the analysis interval+buffer region
--updated 11 existing SNPs with known haplotype info
--added 7221 new SNPs based on known haplotypes
--4 of these replace existing SNPs with incompatible alleles
-reading Panel 1 haplotypes from -h and -l files
--filename=[wgs_chr22.impute.hap]
--filename=[wgs_chr22.impute.legend]
--detected 198 haplotypes
--read 66404 SNPs in the analysis interval+buffer region
--excluded 60027 SNPs, leaving 6377 SNPs for analysis
-reading Panel 0 haplotypes from -h and -l files
--filename=[1000GP_Phase3_chr22.hap.gz]
--filename=[1000GP_Phase3_chr22.legend.gz]
--detected 5008 haplotypes
--read 228896 SNPs in the analysis interval+buffer region
-removing SNPs that violate the hierarchical data requirements
--converted 657 genotyped SNPs with ref panel data to type 3 (these will not inform the imputation)
-removing reference-only SNPs from buffer region
--removed 34209 SNPs
-checking strand alignment between Panel 1 and Panel 0 by allele labels
--flipped strand due to allele mismatch at 0 out of 6357 SNPs in Panel 1
-checking strand alignment between Panel 2 and Panel 0+1 by allele labels
--flipped strand due to allele mismatch at 1935 out of 6357 SNPs in Panel 2
-aligning allele labels between panels
-removing non-aligned genotyped SNPs
--removed 0 out of 6357 SNPs with data in multiple panels
--------------
Data summary
--------------
[type 0 = SNP in Panel 0 only]
[type 1 = SNP in Panel 1]
[type 2 = SNP in Panel 2 and all ref panels]
[type 3 = SNP in Panel 2 only]
-Upstream buffer region
--0 type 0 SNPs
--0 type 1 SNPs
--689 type 2 SNPs
--0 type 3 SNPs
--689 total SNPs
-Downstream buffer region
--0 type 0 SNPs
--0 type 1 SNPs
--229 type 2 SNPs
--0 type 3 SNPs
--229 total SNPs
-Analysis region (as defined by -int argument)
--187693 type 0 SNPs
--0 type 1 SNPs
--5439 type 2 SNPs
--0 type 3 SNPs
--193132 total SNPs
-Output file
--187693 type 0 SNPs
--0 type 1 SNPs
--5439 type 2 SNPs
--0 type 3 SNPs
-In total, 194050 SNPs will be used in the analysis, including 6357 Panel 2 SNPs
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Hello Randel!
We believe that this post does not fit the main topic of this site.
I found that since I set "-os 0 2", type 1 SNPs would not be analyzed.
For this reason we have closed your question. This allows us to keep the site focused on the topics that the community can help with.
If you disagree please tell us why in a reply below, we'll be happy to talk about it.
Cheers!