HaploTypo：用于相位基因组的变异呼叫管道。
HaploTypo: a variant-calling pipeline for phased genomes.
机构信息
Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona 08003, Spain.
Universitat Pompeu Fabra (UPF), Barcelona, Spain.
出版信息
Bioinformatics. 2020 Apr 15;36(8):2569-2571. doi: 10.1093/bioinformatics/btz933.
SUMMARY
An increasing number of phased (i.e. with resolved haplotypes) reference genomes are available. However, the most genetic variant calling tools do not explicitly account for haplotype structure. Here, we present HaploTypo, a pipeline tailored to resolve haplotypes in genetic variation analyses. HaploTypo infers the haplotype correspondence for each heterozygous variant called on a phased reference genome.
AVAILABILITY AND IMPLEMENTATION
HaploTypo is implemented in Python 2.7 and Python 3.5, and is freely available at https://github.com/gabaldonlab/haplotypo, and as a Docker image.
SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.
摘要
越来越多的分相（即已解决单倍型）参考基因组可用。然而，大多数基因变异调用工具并没有明确考虑单倍型结构。在这里，我们提出了 HaploTypo，这是一个专门用于解决遗传变异分析中单倍型的流水线。HaploTypo 推断出在分相参考基因组上调用的每个杂合变异的单倍型对应关系。
可用性和实现
HaploTypo 是用 Python 2.7 和 Python 3.5 实现的，可在 https://github.com/gabaldonlab/haplotypo 上免费获得，并作为 Docker 映像提供。
补充信息
补充数据可在生物信息学在线获得。
Zotero 插件