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4.4 years ago
mel22
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100
Hello, I used the TOPMED imputation server to impute my data, originally Grch37. As explained the server update the data to Grch38 and impute The results are without any RS ID , the names are the position -1 (below), is this accespted result or there is an error ?
Thank you very much for your help !
Results example :
Variant Location Allele
chr1:109080933:A:G 1:109080934-109080934 G
chr10:22529849:G:A 10:22529850-22529850 A
chr10:22529932:T:C 10:22529933-22529933 C
what do you mean by "the names are the position + 1" ? Could you post one line of the resulting imputed vcf. To annotate the imputed vcf you should use dbsnp hg38 vcf with
bcftools annotate
Hi Nicolas, For example the first line the variant is chr1:109080933:A:G and the position is 1:109080934-109080934.
The VCF file :
CHROM POS ID REF ALT QUAL FILTER INFO FORMAT
chr22 10522162 chr22:10522162:G:A G A . PASS AF=0.00001;MAF=0.00001;R2=0.00115;IMPUTED GT:DS:HDS:GP
Thank you very much !
chr1:109080933:A:G seems correct looking at gnomAD : https://gnomad.broadinstitute.org/variant/1-109080933-A-G?dataset=gnomad_r3 . Where did you find the position 1:109080934-109080934. . Also vcf line seems fine for me.
When I tried to annotate with VEP tool ( ensembl) it add 1 automatically for each position, so i thought it could be an imputation error ....