“Variant Normalization”的版本间的差异

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== 图片引用 ==
 
== 图片引用 ==
 
[[文件:PAH.png]]
 
[[文件:PAH.png]]
 
 
 
 
<div class="dp-highlighter"><div class="bar"></div><ol start="1" class="dp-py"><li class="alt"><span><span class="keyword">def</span><span>&nbsp;hello(name="world"):&nbsp;&nbsp;</span></span></li><li class=""><span>&nbsp;&nbsp;&nbsp;&nbsp;<span class="keyword">print</span><span>("hello,&nbsp;"&nbsp;+&nbsp;name)&nbsp;&nbsp;</span></span></li></ol></div>
 
  
 
== 参考 ==
 
== 参考 ==
 
- https://www.liwei8090.com/10586.html
 
- https://www.liwei8090.com/10586.html

2020年1月16日 (四) 06:11的版本

Introduction

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. A failure to recognize this will frequently result in inaccurate analyses.

On this wiki page, we describe a variant normalization procedure that is well defined for biallelic as well as multiallelic variants. We then provide a formal proof the procedure's correctness.

Definition

The normalization of a variant representation in VCF consists of two parts: parsimony and left alignment pertaining to the nature of a variant's length and position respectively.

Parsimony

In the context of variant representation, parsimony means representing a variant in as few nucleotides as possible without reducing the length of any allele to 0. It is a property describing the nature of the length of a variant's alleles and is defined as follows:

 A variant is parsimonious if and only if it is represented in as few nucleotides as possible an allele of length 0.

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测试

hello world


图片引用

PAH.png

参考

- https://www.liwei8090.com/10586.html