“Variant Normalization”的版本间的差异
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+ | <div class="dp-highlighter"><div class="bar"></div><ol start="1" class="dp-py"><li class="alt"><span><span class="keyword">def</span><span> hello(name="world"): </span></span></li><li class=""><span> <span class="keyword">print</span><span>("hello, " + name) </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) 06:10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
hello world
图片引用
- def hello(name="world"):
- print("hello, " + name)