“Variant Normalization”的版本间的差异
(→测试边框) |
|||
第17行: | 第17行: | ||
====== 测试边框 ====== | ====== 测试边框 ====== | ||
− | <div style="width:100px;background-color:#FF0000;border:5px | + | |
+ | solid单线边框 | ||
+ | |||
+ | border:1px solid #808080 | ||
+ | |||
+ | 常用边框之一,推荐 | ||
+ | |||
+ | dashed虚线边框 | ||
+ | |||
+ | border:1px dashed #808080 | ||
+ | |||
+ | 常用边框之一,推荐 | ||
+ | |||
+ | double双线边框 | ||
+ | |||
+ | border:3px double #808080 | ||
+ | |||
+ | 常用双线边框之一,推荐 | ||
+ | |||
+ | <div style="width:100px;background-color:#FF0000;border:5px double #FFFFFF;"> | ||
测试 | 测试 | ||
</div> | </div> |
2020年1月16日 (四) 05:33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.
测试边框
solid单线边框
border:1px solid #808080
常用边框之一,推荐
dashed虚线边框
border:1px dashed #808080
常用边框之一,推荐
double双线边框
border:3px double #808080
常用双线边框之一,推荐
测试