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Review

Next-generation sequencing applied to molecular diagnostics

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Pages 425-444 | Published online: 09 Jan 2014

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Giulia Breveglieri, Alessia Finotti, Monica Borgatti & Roberto Gambari. (2015) Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies. Expert Opinion on Therapeutic Patents 25:12, pages 1453-1476.
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Joanne Mason & Michael Griffiths. (2012) Molecular diagnosis of leukemia. Expert Review of Molecular Diagnostics 12:5, pages 511-526.
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Linnea M Baudhuin, Leslie J Donato & Timothy S Uphoff. (2012) How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care. Expert Review of Molecular Diagnostics 12:1, pages 25-37.
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Wenxiang Lu, Qin Zhou & Yi Chen. (2022) Impact of RNA degradation on next-generation sequencing transcriptome data. Genomics 114:4, pages 110429.
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Hanna Rennert & Debra G. B. Leonard. 2016. Molecular Pathology in Clinical Practice. Molecular Pathology in Clinical Practice 945 973 .
Hayley P. Ellis, Mark Greenslade, Ben Powell, Inmaculada Spiteri, Andrea Sottoriva & Kathreena M. Kurian. (2015) Current Challenges in Glioblastoma: Intratumour Heterogeneity, Residual Disease, and Models to Predict Disease Recurrence. Frontiers in Oncology 5.
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Inga Grünewald, Claudia Vollbrecht, Jeannine Meinrath, Moritz F. Meyer, Lukas C. Heukamp, Uta Drebber, Alexander Quaas, Dirk Beutner, Karl-Bernd Hüttenbrink, Eva Wardelmann, Wolfgang Hartmann, Reinhard Büttner, Margarete Odenthal & Markus Stenner. (2015) Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity. Oncotarget 6:20, pages 18224-18237.
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Hao Ho & Christopher D. Gocke. 2015. Genomic Applications in Pathology. Genomic Applications in Pathology 197 207 .
Kristen K. Ciombor, Sigurdis Haraldsdottir & Richard M. Goldberg. (2014) How Can Next-Generation Sequencing (Genomics) Help Us in Treating Colorectal Cancer?. Current Colorectal Cancer Reports 10:4, pages 372-379.
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Donavan T. Cheng, Janice Cheng, Talia N. Mitchell, Aijazuddin Syed, Ahmet Zehir, Nana Yaa T. Mensah, Alifya Oultache, Khedoudja Nafa, Ross L. Levine, Maria E. Arcila, Michael F. Berger & Cyrus V. Hedvat. (2014) Detection of Mutations in Myeloid Malignancies through Paired-Sample Analysis of Microdroplet-PCR Deep Sequencing Data. The Journal of Molecular Diagnostics 16:5, pages 504-518.
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François Thomas, Christine Desmedt, Philippe Aftimos & Ahmad Awada. (2014) Impact of tumor sequencing on the use of anticancer drugs. Current Opinion in Oncology 26:3, pages 347-356.
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Leticia De Mattos-Arruda, Francois-Clement Bidard, Helen H. Won, Javier Cortes, Charlotte K.Y. Ng, Vicente Peg, Paolo Nuciforo, Achim A. Jungbluth, Britta Weigelt, Michael F. Berger, Joan Seoane & Jorge S. Reis-Filho. (2013) Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: The role of massively parallel sequencing. Molecular Oncology 8:1, pages 150-158.
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Hollis Viray, Kevin Li, Thomas A. Long, Patricia Vasalos, Julia A. Bridge, Lawrence J. Jennings, Kevin C. Halling, Meera Hameed & David L. Rimm. (2013) A Prospective, Multi-Institutional Diagnostic Trial to Determine Pathologist Accuracy in Estimation of Percentage of Malignant Cells. Archives of Pathology & Laboratory Medicine 137:11, pages 1545-1549.
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Melanie A. Jones, Devin Rhodenizer, Cristina da Silva, Israel J. Huff, Lisa Keong, Lora J.H. Bean, Bradford Coffee, Christin Collins, Alice K. Tanner, Miao He & Madhuri R. Hegde. (2013) Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing. Molecular Genetics and Metabolism 110:1-2, pages 78-85.
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Chris Bath. (2013) Human Corneal Epithelial Subpopulations: Oxygen Dependent Ex Vivo Expansion and Transcriptional Profiling . Acta Ophthalmologica 91:thesis4, pages 1-34.
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Paul M. Wilkerson & Jorge S. Reis‐Filho. (2012) the 11q13‐q14 amplicon: Clinicopathological correlations and potential drivers. Genes, Chromosomes and Cancer 52:4, pages 333-355.
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Paul Wilkerson & J Reis-Filho. 2013. Early Breast Cancer. Early Breast Cancer 286 304 .
Feng Liang, Ying-Zhu Liu & Peiming Zhang. (2013) Universal base analogues and their applications in DNA sequencing technology. RSC Advances 3:35, pages 14910.
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Hugo M. Horlings, Thalia A. Farazi & Marc J. van de Vijver. 2013. Molecular Genetic Pathology. Molecular Genetic Pathology 335 368 .
Luc Bissonnette & Michel G. Bergeron. (2012) Multiparametric technologies for the diagnosis of syndromic infections. Clinical Microbiology Newsletter 34:20, pages 159-168.
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Robin L. Jones, Anastasia Constantinidou & Jorge S. Reis-Filho. (2012) Molecular Classification of Breast Cancer. Surgical Pathology Clinics 5:3, pages 701-717.
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Jason M. Rizzo & Michael J. Buck. (2012) Key Principles and Clinical Applications of “Next-Generation” DNA Sequencing . Cancer Prevention Research 5:7, pages 887-900.
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Felipe C Geyer, Magali Lacroix‐Triki, Pierre‐Emmanuel Colombo, Neill Patani, Arnaud Gauthier, Rachael Natrajan, Maryou B K Lambros, Ibrahim Khalifeh, Constance Albarracin, Sandra Orru, Caterina Marchiò, Anna Sapino, Alan Mackay, Britta Weigelt, Fernando C Schmitt, Jelle Wesseling, Nour Sneige & Jorge S Reis‐Filho. (2012) Molecular evidence in support of the neoplastic and precursor nature of microglandular adenosis. Histopathology 60:6B.
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Janet E. Dancey, Philippe L. Bedard, Nicole Onetto & Thomas J. Hudson. (2012) The Genetic Basis for Cancer Treatment Decisions. Cell 148:3, pages 409-420.
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Luka Ozreti?Lukas C. Heukamp, Margarete Odenthal & Reinhard Buettner. (2012) The Role of Molecular Diagnostics in Cancer Diagnosis and Treatment. Onkologie 35:s1, pages 8-12.
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