Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previou...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Cristina Cifaldi [verfasserIn] Immacolata Brigida [verfasserIn] Federica Barzaghi [verfasserIn] Matteo Zoccolillo [verfasserIn] Valentina Ferradini [verfasserIn] Davide Petricone [verfasserIn] Maria Pia Cicalese [verfasserIn] Dejan Lazarevic [verfasserIn] Davide Cittaro [verfasserIn] Maryam Omrani [verfasserIn] Enrico Attardi [verfasserIn] Francesca Conti [verfasserIn] Alessia Scarselli [verfasserIn] Maria Chiriaco [verfasserIn] Silvia Di Cesare [verfasserIn] Francesco Licciardi [verfasserIn] Montin Davide [verfasserIn] Francesca Ferrua [verfasserIn] Clementina Canessa [verfasserIn] Claudio Pignata [verfasserIn] Silvia Giliani [verfasserIn] Simona Ferrari [verfasserIn] Georgia Fousteri [verfasserIn] Graziano Barera [verfasserIn] Pietro Merli [verfasserIn] Paolo Palma [verfasserIn] Simone Cesaro [verfasserIn] Marco Gattorno [verfasserIn] Antonio Trizzino [verfasserIn] Viviana Moschese [verfasserIn] Loredana Chini [verfasserIn] Anna Villa [verfasserIn] Chiara Azzari [verfasserIn] Andrea Finocchi [verfasserIn] Franco Locatelli [verfasserIn] Paolo Rossi [verfasserIn] Federica Sangiuolo [verfasserIn] Alessandro Aiuti [verfasserIn] Caterina Cancrini [verfasserIn] Gigliola Di Matteo [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
In: Frontiers in Immunology - Frontiers Media S.A., 2011, 10(2019) |
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| Übergeordnetes Werk: |
volume:10 ; year:2019 |
| Links: |
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| DOI / URN: |
10.3389/fimmu.2019.00316 |
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| Katalog-ID: |
DOAJ012434817 |
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| 520 | |a Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. | ||
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| 650 | 4 | |a Next Generation Sequencing | |
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| 700 | 0 | |a Francesco Licciardi |e verfasserin |4 aut | |
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10.3389/fimmu.2019.00316 doi (DE-627)DOAJ012434817 (DE-599)DOAJ6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 DE-627 ger DE-627 rakwb eng RC581-607 Cristina Cifaldi verfasserin aut Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy Immacolata Brigida verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Matteo Zoccolillo verfasserin aut Matteo Zoccolillo verfasserin aut Valentina Ferradini verfasserin aut Davide Petricone verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Dejan Lazarevic verfasserin aut Davide Cittaro verfasserin aut Maryam Omrani verfasserin aut Enrico Attardi verfasserin aut Francesca Conti verfasserin aut Alessia Scarselli verfasserin aut Maria Chiriaco verfasserin aut Silvia Di Cesare verfasserin aut Francesco Licciardi verfasserin aut Montin Davide verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Clementina Canessa verfasserin aut Clementina Canessa verfasserin aut Claudio Pignata verfasserin aut Silvia Giliani verfasserin aut Simona Ferrari verfasserin aut Georgia Fousteri verfasserin aut Graziano Barera verfasserin aut Pietro Merli verfasserin aut Paolo Palma verfasserin aut Simone Cesaro verfasserin aut Marco Gattorno verfasserin aut Antonio Trizzino verfasserin aut Viviana Moschese verfasserin aut Viviana Moschese verfasserin aut Loredana Chini verfasserin aut Loredana Chini verfasserin aut Anna Villa verfasserin aut Anna Villa verfasserin aut Chiara Azzari verfasserin aut Chiara Azzari verfasserin aut Andrea Finocchi verfasserin aut Andrea Finocchi verfasserin aut Franco Locatelli verfasserin aut Paolo Rossi verfasserin aut Paolo Rossi verfasserin aut Federica Sangiuolo verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Caterina Cancrini verfasserin aut Caterina Cancrini verfasserin aut Gigliola Di Matteo verfasserin aut Gigliola Di Matteo verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 10(2019) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:10 year:2019 https://doi.org/10.3389/fimmu.2019.00316 kostenfrei https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 kostenfrei https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 |
| spelling |
10.3389/fimmu.2019.00316 doi (DE-627)DOAJ012434817 (DE-599)DOAJ6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 DE-627 ger DE-627 rakwb eng RC581-607 Cristina Cifaldi verfasserin aut Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy Immacolata Brigida verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Matteo Zoccolillo verfasserin aut Matteo Zoccolillo verfasserin aut Valentina Ferradini verfasserin aut Davide Petricone verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Dejan Lazarevic verfasserin aut Davide Cittaro verfasserin aut Maryam Omrani verfasserin aut Enrico Attardi verfasserin aut Francesca Conti verfasserin aut Alessia Scarselli verfasserin aut Maria Chiriaco verfasserin aut Silvia Di Cesare verfasserin aut Francesco Licciardi verfasserin aut Montin Davide verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Clementina Canessa verfasserin aut Clementina Canessa verfasserin aut Claudio Pignata verfasserin aut Silvia Giliani verfasserin aut Simona Ferrari verfasserin aut Georgia Fousteri verfasserin aut Graziano Barera verfasserin aut Pietro Merli verfasserin aut Paolo Palma verfasserin aut Simone Cesaro verfasserin aut Marco Gattorno verfasserin aut Antonio Trizzino verfasserin aut Viviana Moschese verfasserin aut Viviana Moschese verfasserin aut Loredana Chini verfasserin aut Loredana Chini verfasserin aut Anna Villa verfasserin aut Anna Villa verfasserin aut Chiara Azzari verfasserin aut Chiara Azzari verfasserin aut Andrea Finocchi verfasserin aut Andrea Finocchi verfasserin aut Franco Locatelli verfasserin aut Paolo Rossi verfasserin aut Paolo Rossi verfasserin aut Federica Sangiuolo verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Caterina Cancrini verfasserin aut Caterina Cancrini verfasserin aut Gigliola Di Matteo verfasserin aut Gigliola Di Matteo verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 10(2019) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:10 year:2019 https://doi.org/10.3389/fimmu.2019.00316 kostenfrei https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 kostenfrei https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 |
| allfields_unstemmed |
10.3389/fimmu.2019.00316 doi (DE-627)DOAJ012434817 (DE-599)DOAJ6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 DE-627 ger DE-627 rakwb eng RC581-607 Cristina Cifaldi verfasserin aut Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy Immacolata Brigida verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Matteo Zoccolillo verfasserin aut Matteo Zoccolillo verfasserin aut Valentina Ferradini verfasserin aut Davide Petricone verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Dejan Lazarevic verfasserin aut Davide Cittaro verfasserin aut Maryam Omrani verfasserin aut Enrico Attardi verfasserin aut Francesca Conti verfasserin aut Alessia Scarselli verfasserin aut Maria Chiriaco verfasserin aut Silvia Di Cesare verfasserin aut Francesco Licciardi verfasserin aut Montin Davide verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Clementina Canessa verfasserin aut Clementina Canessa verfasserin aut Claudio Pignata verfasserin aut Silvia Giliani verfasserin aut Simona Ferrari verfasserin aut Georgia Fousteri verfasserin aut Graziano Barera verfasserin aut Pietro Merli verfasserin aut Paolo Palma verfasserin aut Simone Cesaro verfasserin aut Marco Gattorno verfasserin aut Antonio Trizzino verfasserin aut Viviana Moschese verfasserin aut Viviana Moschese verfasserin aut Loredana Chini verfasserin aut Loredana Chini verfasserin aut Anna Villa verfasserin aut Anna Villa verfasserin aut Chiara Azzari verfasserin aut Chiara Azzari verfasserin aut Andrea Finocchi verfasserin aut Andrea Finocchi verfasserin aut Franco Locatelli verfasserin aut Paolo Rossi verfasserin aut Paolo Rossi verfasserin aut Federica Sangiuolo verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Caterina Cancrini verfasserin aut Caterina Cancrini verfasserin aut Gigliola Di Matteo verfasserin aut Gigliola Di Matteo verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 10(2019) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:10 year:2019 https://doi.org/10.3389/fimmu.2019.00316 kostenfrei https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 kostenfrei https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 |
| allfieldsGer |
10.3389/fimmu.2019.00316 doi (DE-627)DOAJ012434817 (DE-599)DOAJ6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 DE-627 ger DE-627 rakwb eng RC581-607 Cristina Cifaldi verfasserin aut Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy Immacolata Brigida verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Matteo Zoccolillo verfasserin aut Matteo Zoccolillo verfasserin aut Valentina Ferradini verfasserin aut Davide Petricone verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Dejan Lazarevic verfasserin aut Davide Cittaro verfasserin aut Maryam Omrani verfasserin aut Enrico Attardi verfasserin aut Francesca Conti verfasserin aut Alessia Scarselli verfasserin aut Maria Chiriaco verfasserin aut Silvia Di Cesare verfasserin aut Francesco Licciardi verfasserin aut Montin Davide verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Clementina Canessa verfasserin aut Clementina Canessa verfasserin aut Claudio Pignata verfasserin aut Silvia Giliani verfasserin aut Simona Ferrari verfasserin aut Georgia Fousteri verfasserin aut Graziano Barera verfasserin aut Pietro Merli verfasserin aut Paolo Palma verfasserin aut Simone Cesaro verfasserin aut Marco Gattorno verfasserin aut Antonio Trizzino verfasserin aut Viviana Moschese verfasserin aut Viviana Moschese verfasserin aut Loredana Chini verfasserin aut Loredana Chini verfasserin aut Anna Villa verfasserin aut Anna Villa verfasserin aut Chiara Azzari verfasserin aut Chiara Azzari verfasserin aut Andrea Finocchi verfasserin aut Andrea Finocchi verfasserin aut Franco Locatelli verfasserin aut Paolo Rossi verfasserin aut Paolo Rossi verfasserin aut Federica Sangiuolo verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Caterina Cancrini verfasserin aut Caterina Cancrini verfasserin aut Gigliola Di Matteo verfasserin aut Gigliola Di Matteo verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 10(2019) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:10 year:2019 https://doi.org/10.3389/fimmu.2019.00316 kostenfrei https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 kostenfrei https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 |
| allfieldsSound |
10.3389/fimmu.2019.00316 doi (DE-627)DOAJ012434817 (DE-599)DOAJ6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 DE-627 ger DE-627 rakwb eng RC581-607 Cristina Cifaldi verfasserin aut Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy Immacolata Brigida verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Federica Barzaghi verfasserin aut Matteo Zoccolillo verfasserin aut Matteo Zoccolillo verfasserin aut Valentina Ferradini verfasserin aut Davide Petricone verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Maria Pia Cicalese verfasserin aut Dejan Lazarevic verfasserin aut Davide Cittaro verfasserin aut Maryam Omrani verfasserin aut Enrico Attardi verfasserin aut Francesca Conti verfasserin aut Alessia Scarselli verfasserin aut Maria Chiriaco verfasserin aut Silvia Di Cesare verfasserin aut Francesco Licciardi verfasserin aut Montin Davide verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Francesca Ferrua verfasserin aut Clementina Canessa verfasserin aut Clementina Canessa verfasserin aut Claudio Pignata verfasserin aut Silvia Giliani verfasserin aut Simona Ferrari verfasserin aut Georgia Fousteri verfasserin aut Graziano Barera verfasserin aut Pietro Merli verfasserin aut Paolo Palma verfasserin aut Simone Cesaro verfasserin aut Marco Gattorno verfasserin aut Antonio Trizzino verfasserin aut Viviana Moschese verfasserin aut Viviana Moschese verfasserin aut Loredana Chini verfasserin aut Loredana Chini verfasserin aut Anna Villa verfasserin aut Anna Villa verfasserin aut Chiara Azzari verfasserin aut Chiara Azzari verfasserin aut Andrea Finocchi verfasserin aut Andrea Finocchi verfasserin aut Franco Locatelli verfasserin aut Paolo Rossi verfasserin aut Paolo Rossi verfasserin aut Federica Sangiuolo verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Alessandro Aiuti verfasserin aut Caterina Cancrini verfasserin aut Caterina Cancrini verfasserin aut Gigliola Di Matteo verfasserin aut Gigliola Di Matteo verfasserin aut In Frontiers in Immunology Frontiers Media S.A., 2011 10(2019) (DE-627)657998354 (DE-600)2606827-8 16643224 nnns volume:10 year:2019 https://doi.org/10.3389/fimmu.2019.00316 kostenfrei https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 kostenfrei https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full kostenfrei https://doaj.org/toc/1664-3224 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2019 |
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In Frontiers in Immunology 10(2019) volume:10 year:2019 |
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primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex Immunologic diseases. Allergy |
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Cristina Cifaldi @@aut@@ Immacolata Brigida @@aut@@ Federica Barzaghi @@aut@@ Matteo Zoccolillo @@aut@@ Valentina Ferradini @@aut@@ Davide Petricone @@aut@@ Maria Pia Cicalese @@aut@@ Dejan Lazarevic @@aut@@ Davide Cittaro @@aut@@ Maryam Omrani @@aut@@ Enrico Attardi @@aut@@ Francesca Conti @@aut@@ Alessia Scarselli @@aut@@ Maria Chiriaco @@aut@@ Silvia Di Cesare @@aut@@ Francesco Licciardi @@aut@@ Montin Davide @@aut@@ Francesca Ferrua @@aut@@ Clementina Canessa @@aut@@ Claudio Pignata @@aut@@ Silvia Giliani @@aut@@ Simona Ferrari @@aut@@ Georgia Fousteri @@aut@@ Graziano Barera @@aut@@ Pietro Merli @@aut@@ Paolo Palma @@aut@@ Simone Cesaro @@aut@@ Marco Gattorno @@aut@@ Antonio Trizzino @@aut@@ Viviana Moschese @@aut@@ Loredana Chini @@aut@@ Anna Villa @@aut@@ Chiara Azzari @@aut@@ Andrea Finocchi @@aut@@ Franco Locatelli @@aut@@ Paolo Rossi @@aut@@ Federica Sangiuolo @@aut@@ Alessandro Aiuti @@aut@@ Caterina Cancrini @@aut@@ Gigliola Di Matteo @@aut@@ |
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2019-01-01T00:00:00Z |
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englisch |
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While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. 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R - Medicine |
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Cristina Cifaldi |
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Cristina Cifaldi misc RC581-607 misc primary immunodeficiencies misc Next Generation Sequencing misc gene panels misc Ion Torrent misc Haloplex misc Immunologic diseases. Allergy Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies |
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RC581-607 Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies primary immunodeficiencies Next Generation Sequencing gene panels Ion Torrent Haloplex |
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misc RC581-607 misc primary immunodeficiencies misc Next Generation Sequencing misc gene panels misc Ion Torrent misc Haloplex misc Immunologic diseases. Allergy |
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misc RC581-607 misc primary immunodeficiencies misc Next Generation Sequencing misc gene panels misc Ion Torrent misc Haloplex misc Immunologic diseases. Allergy |
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misc RC581-607 misc primary immunodeficiencies misc Next Generation Sequencing misc gene panels misc Ion Torrent misc Haloplex misc Immunologic diseases. Allergy |
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Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies |
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Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies |
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Cristina Cifaldi |
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Cristina Cifaldi Immacolata Brigida Federica Barzaghi Matteo Zoccolillo Valentina Ferradini Davide Petricone Maria Pia Cicalese Dejan Lazarevic Davide Cittaro Maryam Omrani Enrico Attardi Francesca Conti Alessia Scarselli Maria Chiriaco Silvia Di Cesare Francesco Licciardi Montin Davide Francesca Ferrua Clementina Canessa Claudio Pignata Silvia Giliani Simona Ferrari Georgia Fousteri Graziano Barera Pietro Merli Paolo Palma Simone Cesaro Marco Gattorno Antonio Trizzino Viviana Moschese Loredana Chini Anna Villa Chiara Azzari Andrea Finocchi Franco Locatelli Paolo Rossi Federica Sangiuolo Alessandro Aiuti Caterina Cancrini Gigliola Di Matteo |
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targeted ngs platforms for genetic screening and gene discovery in primary immunodeficiencies |
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RC581-607 |
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Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies |
| abstract |
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. |
| abstractGer |
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. |
| abstract_unstemmed |
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene. |
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Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies |
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https://doi.org/10.3389/fimmu.2019.00316 https://doaj.org/article/6c77c5fc57fe4e6d8f9a9dfe6dedd1b7 https://www.frontiersin.org/article/10.3389/fimmu.2019.00316/full https://doaj.org/toc/1664-3224 |
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Immacolata Brigida Federica Barzaghi Matteo Zoccolillo Valentina Ferradini Davide Petricone Maria Pia Cicalese Dejan Lazarevic Davide Cittaro Maryam Omrani Enrico Attardi Francesca Conti Alessia Scarselli Maria Chiriaco Silvia Di Cesare Francesco Licciardi Montin Davide Francesca Ferrua Clementina Canessa Claudio Pignata Silvia Giliani Simona Ferrari Georgia Fousteri Graziano Barera Pietro Merli Paolo Palma Simone Cesaro Marco Gattorno Antonio Trizzino Viviana Moschese Loredana Chini Anna Villa Chiara Azzari Andrea Finocchi Franco Locatelli Paolo Rossi Federica Sangiuolo Alessandro Aiuti Caterina Cancrini Gigliola Di Matteo |
| author2Str |
Immacolata Brigida Federica Barzaghi Matteo Zoccolillo Valentina Ferradini Davide Petricone Maria Pia Cicalese Dejan Lazarevic Davide Cittaro Maryam Omrani Enrico Attardi Francesca Conti Alessia Scarselli Maria Chiriaco Silvia Di Cesare Francesco Licciardi Montin Davide Francesca Ferrua Clementina Canessa Claudio Pignata Silvia Giliani Simona Ferrari Georgia Fousteri Graziano Barera Pietro Merli Paolo Palma Simone Cesaro Marco Gattorno Antonio Trizzino Viviana Moschese Loredana Chini Anna Villa Chiara Azzari Andrea Finocchi Franco Locatelli Paolo Rossi Federica Sangiuolo Alessandro Aiuti Caterina Cancrini Gigliola Di Matteo |
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RC - Internal Medicine |
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10.3389/fimmu.2019.00316 |
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RC581-607 |
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2024-07-04T01:02:16.798Z |
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|
| score |
7.40158 |