“Variant Normalization”的版本间的差异
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Suqingdong(讨论 | 贡献) |
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<h1>hello world</h1> | <h1>hello world</h1> | ||
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+ | == 图片引用 == | ||
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== 参考 == | == 参考 == | ||
− | + | * https://www.liwei8090.com/10586.html | |
+ | * https://genome.sph.umich.edu/wiki/Variant_Normalization | ||
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+ | [[category:常见问题]] | ||
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+ | ---- | ||
+ | {{SQD的模板}} | ||
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2020年1月18日 (六) 09:39的最新版本
目录
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
参考
用户留言: |
为什么要对VCF进行norm操作?norm是针对INDEL不同表示形式的统一 |
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