Andrea C, Giulio S, Giulia P (2026). Analyze gene therapy vector insertion sites data identified from genomics next generation sequencing reads for clonal tracking studies. doi:10.18129/B9.bioc.ISAnalytics. https://github.com/calabrialab/ISAnalytics - R package version 1.23.0, http://www.bioconductor.org/packages/ISAnalytics.
Giulia P, Giulio S, Eugenio M, Andrea C (2022). “ISAnalytics enables longitudinal and high-throughput clonal tracking studies in hematopoietic stem cell gene therapy applications.” Briefings in Bioinformatics, 24(1). ISSN -2577. doi:10.1093/bib/bbac551. https://academic.oup.com/bib/article-pdf/24/1/bbac551/48782955/bbac551.pdf, https://doi.org/10.1093/bib/bbac551.
Corresponding BibTeX entries:
@Manual{,
title = {Analyze gene therapy vector insertion sites data
identified from genomics next generation sequencing reads for
clonal tracking studies},
author = {Calabria Andrea and Spinozzi Giulio and Pais Giulia},
year = {2026},
url = {http://www.bioconductor.org/packages/ISAnalytics},
note = {https://github.com/calabrialab/ISAnalytics - R package
version 1.23.0},
doi = {10.18129/B9.bioc.ISAnalytics},
}
@Article{,
title = {ISAnalytics enables longitudinal and high-throughput
clonal tracking studies in hematopoietic stem cell gene therapy
applications},
author = {Pais Giulia and Spinozzi Giulio and Montini Eugenio and
Calabria Andrea},
year = {2022},
journal = {Briefings in Bioinformatics},
volume = {24},
number = {1},
doi = {10.1093/bib/bbac551},
url = {https://doi.org/10.1093/bib/bbac551},
abstract = {Longitudinal clonal tracking studies based on
high-throughput sequencing technologies supported safety and
long-term efficacy and unraveled hematopoietic reconstitution in
many gene therapy applications with unprecedented resolution.
However, monitoring patients over a decade-long follow-up entails
a constant increase of large data volume with the emergence of
critical computational challenges, unfortunately not addressed by
currently available tools. Here we present ISAnalytics, a new R
package for comprehensive and high-throughput clonal tracking
studies using vector integration sites as markers of cellular
identity. Once identified the clones externally from ISAnalytics
and imported in the package, a wide range of implemented
functionalities are available to users for assessing the safety
and long-term efficacy of the treatment, here described in a
clinical trial use case for Hurler disease, and for supporting
hematopoietic stem cell biology in vivo with longitudinal
analysis of clones over time, proliferation and differentiation.
ISAnalytics is conceived to be metadata-driven, enabling users to
focus on biological questions and hypotheses rather than on
computational aspects. ISAnalytics can be fully integrated within
laboratory workflows and standard procedures. Moreover,
ISAnalytics is designed with efficient and scalable data
structures, benchmarked with previous methods, and grants
reproducibility and full analytical control through interactive
web-reports and a module with Shiny interface. The implemented
functionalities are flexible for all viral vector-based clonal
tracking applications as well as genetic barcoding or cancer
immunotherapies.},
issn = {-2577},
eprint =
{https://academic.oup.com/bib/article-pdf/24/1/bbac551/48782955/bbac551.pdf},
}