Closed Parsoa closed 3 years ago
Here is the message: chr1:114350134 Padding base in genome is different from VCF. Use the one from genome This indicates that the base at this position in your vcf is different from the base from your reference fasta. There could be 2 possibilities:
Could you please double-check these two things?
The problem was actually that my BAM file was mapped against a reference that didn't have "chr" prefix for chromosomes, while my VCF and FASTA file had those prefixes.
I have a VCF of SVs in GRCh38, but I need to genotype a number of samples mapped to GRCh37. Remapping the samples is not an option. I converted my original variants from VCF to BED by just keeping the CHROM, BEGIN and END (from INFO) fields. I then lifted the BED file using UCSC and updated the VCF file with new coordinates (only BEGIN and END will change).
Paragraph could genotype the original calls without problem but it crashes when trying to genotype the lifted. I created a new VCF file with only 10 of the SVs and passed that to Paragraph to try to figure out what's wrong. Here's the error I get:
The SVs being genotyped (original coordinates):
Lifted to GRCh37 will look like:
The error isn't really helpful. What am I doing wrong?