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SangeR: the high-throughput Sanger sequencing analysis pipeline

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 analysi...

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Autores principales: Schmid, Kai, Dohmen, Hildegard, Ritschel, Nadja, Selignow, Carmen, Zohner, Jochen, Sehring, Jannik, Acker, Till, Amsel, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710597/
https://www.ncbi.nlm.nih.gov/pubmed/36699395
http://dx.doi.org/10.1093/bioadv/vbac009
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author Schmid, Kai
Dohmen, Hildegard
Ritschel, Nadja
Selignow, Carmen
Zohner, Jochen
Sehring, Jannik
Acker, Till
Amsel, Daniel
author_facet Schmid, Kai
Dohmen, Hildegard
Ritschel, Nadja
Selignow, Carmen
Zohner, Jochen
Sehring, Jannik
Acker, Till
Amsel, Daniel
author_sort Schmid, Kai
collection PubMed
description 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.
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spelling pubmed-97105972023-01-24 SangeR: the high-throughput Sanger sequencing analysis pipeline Schmid, Kai Dohmen, Hildegard Ritschel, Nadja Selignow, Carmen Zohner, Jochen Sehring, Jannik Acker, Till Amsel, Daniel Bioinform Adv Application Note 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. Oxford University Press 2022-01-31 /pmc/articles/PMC9710597/ /pubmed/36699395 http://dx.doi.org/10.1093/bioadv/vbac009 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Application Note
Schmid, Kai
Dohmen, Hildegard
Ritschel, Nadja
Selignow, Carmen
Zohner, Jochen
Sehring, Jannik
Acker, Till
Amsel, Daniel
SangeR: the high-throughput Sanger sequencing analysis pipeline
title SangeR: the high-throughput Sanger sequencing analysis pipeline
title_full SangeR: the high-throughput Sanger sequencing analysis pipeline
title_fullStr SangeR: the high-throughput Sanger sequencing analysis pipeline
title_full_unstemmed SangeR: the high-throughput Sanger sequencing analysis pipeline
title_short SangeR: the high-throughput Sanger sequencing analysis pipeline
title_sort sanger: the high-throughput sanger sequencing analysis pipeline
topic Application Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710597/
https://www.ncbi.nlm.nih.gov/pubmed/36699395
http://dx.doi.org/10.1093/bioadv/vbac009
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