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ABSTRACT: 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 Bioinformatics online.
SUBMITTER: Schmid K
PROVIDER: S-EPMC9710597 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Schmid Kai K Dohmen Hildegard H Ritschel Nadja N Selignow Carmen C Zohner Jochen J Sehring Jannik J Acker Till T Amsel Daniel D
Bioinformatics advances 20220131 1
<h4>Summary</h4>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 dec ...[more]