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, 18:30, 5 September 2014
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| The Variant Call Format (VCF) is a flexible file format specification that allows us to represent many different variant types ranging from SNPs, indels to copy number variations. However, variant representation in VCF is non-unique for variants that have explicitly expressed reference and alternate sequences. | | The Variant Call Format (VCF) is a flexible file format specification that allows us to represent many different variant types ranging from SNPs, indels to copy number variations. However, variant representation in VCF is non-unique for variants that have explicitly expressed reference and alternate sequences. |
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− | On this wiki page, we describe a a variant classification system for VCF variants. | + | On this wiki page, we describe a a variant classification system for VCF entries that is invariant to normalization. |
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| = Definitions = | | = Definitions = |