据文章介绍,SHAPEIT5使用三种不同的定相模型对WGS或WES数据进行单倍型定相(图1),每个定相模型侧重于不同类型的变异:(1)使用SHAPEIT4模型对常见变异进行定相;(2)利用插补模型,将罕见变异分阶段植入所产生的单倍型;(3)采用合并启发模型对单例变异进行分阶段分析。SHAPEIT5对每个罕见杂合基因型进行定相,以少量信息丰...
SHAPEIT5 estimates haplotypes in large datasets, with a special focus on rare variants. docker: all script needed to build a docker file comprising all binaries docs: documentation in html ligate: ligate multiple phased BCF/VCF files into a chromosome length file ...
4 changes: 2 additions & 2 deletions4modules/nf-core/shapeit5/ligate/meta.yml Original file line numberDiff line numberDiff line change Expand Up@@ -12,8 +12,8 @@ tools: homepage:"https://odelaneau.github.io/shapeit5/" documentation:"https://odelaneau.github.io/shapeit5/docs/documentati...