What are reference alleles and alternate alleles in VCF (Variant Call Format) file?

What are reference alleles and alternate alleles in VCF (Variant Call Format) file? Does reference allele mean the allele in the reference genome and alternate alleles are alleles we see in the patient we are studying?

snp genome

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updated 6.6 years ago by Kevin Blighe

• written 6.6 years ago by Tina •

1 answer

Yes, but be aware of these situations: A: Minor Reference Allele Frequency in GRCh37/hg19

Kevin

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written 6.6 years ago by Kevin Blighe

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