SangeR：高通量桑格测序分析流程
SangeR: the high-throughput Sanger sequencing analysis pipeline.
作者信息
Schmid Kai, Dohmen Hildegard, Ritschel Nadja, Selignow Carmen, Zohner Jochen, Sehring Jannik, Acker Till, Amsel Daniel
机构信息
Department of Neuropathology, Justus-Liebig University Giessen, Arndtstr, 16 D-35392 Giessen, Germany.
Department of Medical Informatics, Justus-Liebig University Giessen, Rudolf-Buchheim-Str, 6 D-35396 Giessen, Germany.
出版信息
Bioinform Adv. 2022 Jan 31;2(1):vbac009. doi: 10.1093/bioadv/vbac009. eCollection 2022.
SUMMARY
In the era of next generation sequencing and beyond, the Sanger technique is still widely used for variant verification of inconclusive or ambiguous high-throughput sequencing results or as a low-cost molecular genetical analysis tool for single targets in many fields of study. Many analysis steps need time-consuming manual intervention. Therefore, we present here a pipeline-capable high-throughput solution with an optional Shiny web interface, that provides a binary mutation decision of hotspots together with plotted chromatograms including annotations via flat files.
AVAILABILITY AND IMPLEMENTATION
SangeR is freely available at https://github.com/Neuropathology-Giessen/SangeR and https://hub.docker.com/repository/docker/kaischmid/sange_r.
CONTACT
Kai.Schmid@patho.med.uni-giessen.de or Daniel.Amsel@patho.med.uni-giessen.de.
SUPPLEMENTARY INFORMATION
Supplementary data are available at online.
摘要
在下一代测序及以后的时代，桑格技术仍然被广泛用于不确定或模糊的高通量测序结果的变异验证，或作为许多研究领域中针对单个靶点的低成本分子遗传学分析工具。许多分析步骤需要耗时的人工干预。因此，我们在此展示一种具有可选Shiny网络界面的、具备流水线功能的高通量解决方案，该方案通过平面文件提供热点突变的二元决策以及带有注释的色谱图。
可用性与实施
联系方式
Kai.Schmid@patho.med.uni-giessen.de或Daniel.Amsel@patho.med.uni-giessen.de。
补充信息
补充数据可在网上获取。
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