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ClinVAP: a reporting strategy from variants to therapeutic options

MOTIVATION: Next-generation sequencing has become routine in oncology and opens up new avenues of therapies, particularly in personalized oncology setting. An increasing number of cases also implies a need for a more robust, automated and reproducible processing of long lists of variants for cancer...

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Autores principales: Sürün, Bilge, Schärfe, Charlotta P I, Divine, Mathew R, Heinrich, Julian, Toussaint, Nora C, Zimmermann, Lukas, Beha, Janina, Kohlbacher, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141851/
https://www.ncbi.nlm.nih.gov/pubmed/31830259
http://dx.doi.org/10.1093/bioinformatics/btz924
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author Sürün, Bilge
Schärfe, Charlotta P I
Divine, Mathew R
Heinrich, Julian
Toussaint, Nora C
Zimmermann, Lukas
Beha, Janina
Kohlbacher, Oliver
author_facet Sürün, Bilge
Schärfe, Charlotta P I
Divine, Mathew R
Heinrich, Julian
Toussaint, Nora C
Zimmermann, Lukas
Beha, Janina
Kohlbacher, Oliver
author_sort Sürün, Bilge
collection PubMed
description MOTIVATION: Next-generation sequencing has become routine in oncology and opens up new avenues of therapies, particularly in personalized oncology setting. An increasing number of cases also implies a need for a more robust, automated and reproducible processing of long lists of variants for cancer diagnosis and therapy. While solutions for the large-scale analysis of somatic variants have been implemented, existing solutions often have issues with reproducibility, scalability and interoperability. RESULTS: Clinical Variant Annotation Pipeline (ClinVAP) is an automated pipeline which annotates, filters and prioritizes somatic single nucleotide variants provided in variant call format. It augments the variant information with documented or predicted clinical effect. These annotated variants are prioritized based on driver gene status and druggability. ClinVAP is available as a fully containerized, self-contained pipeline maximizing reproducibility and scalability allowing the analysis of larger scale data. The resulting JSON-based report is suited for automated downstream processing, but ClinVAP can also automatically render the information into a user-defined template to yield a human-readable report. AVAILABILITY AND IMPLEMENTATION: ClinVAP is available at https://github.com/PersonalizedOncology/ClinVAP. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-71418512020-04-13 ClinVAP: a reporting strategy from variants to therapeutic options Sürün, Bilge Schärfe, Charlotta P I Divine, Mathew R Heinrich, Julian Toussaint, Nora C Zimmermann, Lukas Beha, Janina Kohlbacher, Oliver Bioinformatics Applications Notes MOTIVATION: Next-generation sequencing has become routine in oncology and opens up new avenues of therapies, particularly in personalized oncology setting. An increasing number of cases also implies a need for a more robust, automated and reproducible processing of long lists of variants for cancer diagnosis and therapy. While solutions for the large-scale analysis of somatic variants have been implemented, existing solutions often have issues with reproducibility, scalability and interoperability. RESULTS: Clinical Variant Annotation Pipeline (ClinVAP) is an automated pipeline which annotates, filters and prioritizes somatic single nucleotide variants provided in variant call format. It augments the variant information with documented or predicted clinical effect. These annotated variants are prioritized based on driver gene status and druggability. ClinVAP is available as a fully containerized, self-contained pipeline maximizing reproducibility and scalability allowing the analysis of larger scale data. The resulting JSON-based report is suited for automated downstream processing, but ClinVAP can also automatically render the information into a user-defined template to yield a human-readable report. AVAILABILITY AND IMPLEMENTATION: ClinVAP is available at https://github.com/PersonalizedOncology/ClinVAP. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2020-04-01 2019-12-12 /pmc/articles/PMC7141851/ /pubmed/31830259 http://dx.doi.org/10.1093/bioinformatics/btz924 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Sürün, Bilge
Schärfe, Charlotta P I
Divine, Mathew R
Heinrich, Julian
Toussaint, Nora C
Zimmermann, Lukas
Beha, Janina
Kohlbacher, Oliver
ClinVAP: a reporting strategy from variants to therapeutic options
title ClinVAP: a reporting strategy from variants to therapeutic options
title_full ClinVAP: a reporting strategy from variants to therapeutic options
title_fullStr ClinVAP: a reporting strategy from variants to therapeutic options
title_full_unstemmed ClinVAP: a reporting strategy from variants to therapeutic options
title_short ClinVAP: a reporting strategy from variants to therapeutic options
title_sort clinvap: a reporting strategy from variants to therapeutic options
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141851/
https://www.ncbi.nlm.nih.gov/pubmed/31830259
http://dx.doi.org/10.1093/bioinformatics/btz924
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