MRCIEU / gwas-vcf-specification

Specification for the GWAS-VCF format (manuscript in preparation)

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Make requirement for non-duplicated variants explicit

marcora opened this issue · comments

We should make explicit that duplicated variants (same CHROM:POS:REF:ALT) are not allowed, as per VCF spec. The VCF spec does not make this explicit (even though it can be deduced) and it creates confusion among end users. Indeed, malformed/invalid VCFs are often generated with duplicate variants, even though they would fail validation using EBI's https://github.com/EBIvariation/vcf-validator