A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Elisa Contini; Irene Paganini; Roberta Sestini; Luisa Candita; Gabriele Lorenzo Capone; Lorenzo Barbetti; Serena Falconi; Sabrina Frusconi; Irene Giotti; Costanza Giuliani; Francesca Torricelli; Matteo Benelli; Laura Papi

doi:10.1371/journal.pone.0129099

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Open Access

Peer-reviewed

Research Article

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Elisa Contini ,

Contributed equally to this work with: Elisa Contini, Irene Paganini

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Irene Paganini ,

Contributed equally to this work with: Elisa Contini, Irene Paganini

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯
Roberta Sestini,

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯
Luisa Candita,

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯
Gabriele Lorenzo Capone,

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯
Lorenzo Barbetti,

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯
Serena Falconi,

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Sabrina Frusconi,

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Irene Giotti,

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Costanza Giuliani,

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Francesca Torricelli,

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Matteo Benelli ,

* E-mail: ire.paganini@gmail.com

¶‡ MB and LP are joint senior authors on this work and also contributed equally to this work

Affiliation Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy
⨯
Laura Papi

¶‡ MB and LP are joint senior authors on this work and also contributed equally to this work

Affiliation Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy
⨯

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

Elisa Contini,
Irene Paganini,
Roberta Sestini,
Luisa Candita,
Gabriele Lorenzo Capone,
Lorenzo Barbetti,
Serena Falconi,
Sabrina Frusconi,
Irene Giotti,
Costanza Giuliani

Published: June 12, 2015
https://doi.org/10.1371/journal.pone.0129099

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