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, 19:54, 19 May 2014
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| = Introduction = | | = Introduction = |
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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 Indels, a failure to recognize this and handling it studying the variants naively will ofttimes result in inaccurate analyses. | + | 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 Indels, a failure to recognize this will ofttimes result in inaccurate analyses. |
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| Here, we describe a variant normalization procedure that is well defined for biallelic as well as multiallelic variants. We provide a formal proof of correctness | | Here, we describe a variant normalization procedure that is well defined for biallelic as well as multiallelic variants. We provide a formal proof of correctness |