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Expert Review of Molecular Diagnostics Volume 14, 2014 - Issue 5
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Original Research

Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing

Daniel S GrosuIllumina, Inc., San Diego, CA 92122, USA
,
Lynda HagueIllumina, Inc., San Diego, CA 92122, USA
,
Manjula ChelliserryIllumina, Inc., San Diego, CA 92122, USA
,
Kristina M KruglyakIllumina, Inc., San Diego, CA 92122, USA
,
Ross LentaIllumina, Inc., San Diego, CA 92122, USA
,
Brandy KlotzleIllumina, Inc., San Diego, CA 92122, USA
,
Jonathan SanIllumina, Inc., San Diego, CA 92122, USA
,
Wendy M GoldsteinIllumina, Inc., San Diego, CA 92122, USA
,
Sharmili MoturiIllumina, Inc., San Diego, CA 92122, USA
,
Patricia DeversVerinata Health, Inc., an Illumina Company, Redwood City, CA 94063, USA
,
Julie WoolworthDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425, USA
,
Eric PetersIllumina, Inc., San Diego, CA 92122, USA
,
Barbara ElashoffMyraqa, Inc., Redwood Shores, CA 94065, USA
,
Jay StoerkerProgenity, Inc., Ann Arbor, MI 49108, USA
,
Daynna J WolffDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425, USA
,
Kenneth J FriedmanLaboratory Corporation of America Holding, Research Triangle Park, NC 27709, USA
,
W Edward HighsmithDepartment of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
,
Erick LinIllumina, Inc., San Diego, CA 92122, USA
&
Frank S OngIllumina, Inc., San Diego, CA 92122, USACorrespondence[email protected]
 show all
Pages 605-622 | Published online: 21 May 2014

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Anne Bergougnoux, Magali Taulan-Cadars, Mireille Claustres & Caroline Raynal. (2018) Current and future molecular approaches in the diagnosis of cystic fibrosis. Expert Review of Respiratory Medicine 12:5, pages 415-426.
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Articles from other publishers (18)

Aubrey Milunsky & Jeff M. MilunskyWayne W. Grody. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 611 628 .
José Luis García-Giménez, Jesús Beltrán-García, Carlos Romá-Mateo, Marta Seco-Cervera, Gisselle Pérez-Machado & Salvador Mena-Mollá. 2019. Prognostic Epigenetics. Prognostic Epigenetics 21 44 .
Wayne W. Grody & Joshua L. Deignan. 2019. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics 165 203 .
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang, Chao Wu, Holly Dubbs, Alisha Wilkens, Livija Medne, Emma Bedoukian, Peter S White, Jeffrey Pennington, Minjie Lou, Laura Conlin, Dimitri Monos, Mahdi Sarmady, Eric Marsh, Elaine Zackai, Nancy Spinner, Ian Krantz, Matt Deardorff & Avni Santani. (2017) Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genetics in Medicine 20:3, pages 329-336.
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Marco Lucarelli, Luigi Porcaro, Alice Biffignandi, Lucy Costantino, Valentina Giannone, Luisella Alberti, Sabina Maria Bruno, Carlo Corbetta, Erminio Torresani, Carla Colombo & Manuela Seia. (2017) A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology. The Journal of Molecular Diagnostics 19:5, pages 788-800.
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Lynn Pique, Steve Graham, Michelle Pearl, Martin Kharrazi & Iris Schrijver. (2016) Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients. Genetics in Medicine 19:1, pages 36-44.
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J.T. Jørgensen & K.B. Nielsen. 2017. Comprehensive Medicinal Chemistry III. Comprehensive Medicinal Chemistry III 530 545 .
CA Cummings, E Peters, L Lacroix, F Andre & MR Lackner. (2016) The Role of Next-Generation Sequencing in Enabling Personalized Oncology Therapy. Clinical and Translational Science 9:6, pages 283-292.
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Dmitriy Khodakov, Chunyan Wang & David Yu Zhang. (2016) Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches. Advanced Drug Delivery Reviews 105, pages 3-19.
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Martina I. Lefterova, Peidong Shen, Justin I. Odegaard, Eula Fung, Tsoyu Chiang, Gang Peng, Ronald W. Davis, Wenyi Wang, Martin Kharrazi, Iris Schrijver & Curt Scharfe. (2016) Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. The Journal of Molecular Diagnostics 18:2, pages 267-282.
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Sangmoon LeeMurim Choi. (2016) Ultra-rare Disease and Genomics-Driven Precision Medicine. Genomics & Informatics 14:2, pages 42.
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Kristina M. Kruglyak, Erick Lin & Frank S. Ong. 2016. Lung Cancer and Personalized Medicine: Novel Therapies and Clinical Management. Lung Cancer and Personalized Medicine: Novel Therapies and Clinical Management 123 136 .
Jonathan C. Barone, Katsuyuki Saito, Karl Beutner, Maria Campo, Wei Dong, Chirayu P. Goswami, Erica S. Johnson, Zi-Xuan Wang & Susan Hsu. (2015) HLA-genotyping of clinical specimens using Ion Torrent-based NGS. Human Immunology 76:12, pages 903-909.
Crossref
Wayne W. Grody. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 700 717 .
Daniel Trujillano, Maximilian E. R. Weiss, Julia K?ster, Efstathios B. Papachristos, Martin Werber, Krishna Kumar Kandaswamy, Anett Marais, Sabrina Eichler, Jenny Creed, Erol Baysal, Iqbal Yousuf Jaber, Dina Ahmed Mehaney, Chantal Farra & Arndt Rolfs. (2015) Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR . Molecular Genetics & Genomic Medicine 3:5, pages 396-403.
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Kristin K. Deeb, James D. Metcalf, Kaitlin M. Sesock, Junqing Shen, Christine A. Wensel, Larisa I. Rippel, Michelle Smith, Mark S. Chapman & Shulin Zhang. (2015) The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform. The Journal of Molecular Diagnostics 17:4, pages 360-365.
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J. Robert Chang, Enkhtsetseg Purev & Winston Patrick Kuo. 2015. Genomics, Personalized Medicine and Oral Disease. Genomics, Personalized Medicine and Oral Disease 11 34 .
Karin Lemuth & Steffen Rupp. 2015. RNA and DNA Diagnostics. RNA and DNA Diagnostics 259 280 .

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