Changes

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.

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.

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  

 

of the procedure.

On this page, we describe a variant normalization procedure that is well defined for biallelic as well as multiallelic variants and provide a formal proof of correctness of the procedure.

= Normalization =

= Normalization =