Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration

Pasquale Savarese, Valentina Ronga, Saveria Rivetti, Marianna De Simone, Roberta Coda, Claudia Quartotti, Lidia Copponi, Junlan Wu, Di Wu, Xin Liu, Marco Varelli

Open source

DOI
10.3390/diagnostics16142138
Published
2026-07-08
Container
Diagnostics
Publisher
MDPI AG
Open access
unknown

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BibTeX

@article{allodium:10.3390/diagnostics16142138,
  title = {Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration},
  author = {Pasquale Savarese and Valentina Ronga and Saveria Rivetti and Marianna De Simone and Roberta Coda and Claudia Quartotti and Lidia Copponi and Junlan Wu and Di Wu and Xin Liu and Marco Varelli},
  year = {2026},
  journal = {Diagnostics},
  doi = {10.3390/diagnostics16142138},
  url = {https://doi.org/10.3390/diagnostics16142138}
}

RIS

TY  - JOUR
TI  - Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration
AU  - Pasquale Savarese
AU  - Valentina Ronga
AU  - Saveria Rivetti
AU  - Marianna De Simone
AU  - Roberta Coda
AU  - Claudia Quartotti
AU  - Lidia Copponi
AU  - Junlan Wu
AU  - Di Wu
AU  - Xin Liu
AU  - Marco Varelli
PY  - 2026
JO  - Diagnostics
DO  - 10.3390/diagnostics16142138
UR  - https://doi.org/10.3390/diagnostics16142138
ER  - 

APA

Savarese, P., Ronga, V., Rivetti, S., Simone, M. D., Coda, R., Quartotti, C., Copponi, L., Wu, J., Wu, D., Liu, X., & Varelli, M. (2026). Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration. Diagnostics. https://doi.org/10.3390/diagnostics16142138

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