Application of next-generation sequencing in haematology
Angela Hamblin
Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
Nuffield Department of Orthopaedics, Rheumatology & Musculoskeletal Sciences, Oxford University, Oxford, United Kingdom
Search for more papers by this authorAdele Timbs
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
Search for more papers by this authorAngela Hamblin
Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
Nuffield Department of Orthopaedics, Rheumatology & Musculoskeletal Sciences, Oxford University, Oxford, United Kingdom
Search for more papers by this authorAdele Timbs
Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
Search for more papers by this authorAdam J Mead PhD, FRCP, FRCPath, FMedSci
Haematopoietic Stem Cell Biology Laboratory, Medical Research Council Molecular Haematology Unit, Medical Research Council Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
Search for more papers by this authorMichael A Laffan DM, MRCP, FRCPath
Department of Immunology and Inflammation, Faculty of Medicine, Imperial College London, London, UK
Search for more papers by this authorGraham P Collins DPhil, FRCP, FRCPath
Department of Haematology, Oxford Cancer and Haematology Centre, Oxford, UK
Search for more papers by this authorDeborah Hay DPhil, MRCP, FRCPath
Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK
Search for more papers by this authorA Victor Hoffbrand MA, DM, FRCP, FRCPath, FRCP (Edin), DSc, FMedSci
Emeritus Professor of Haematology Honorary Consultant Haematologist
University College London, London, UK
Royal Free Hospital, London, UK
Search for more papers by this authorSummary
For over 60 years since the discovery of the Philadelphia chromosome, the role of genomics in haematological diseases has been evident. With the advent of Next- Generation Sequencing (NGS), which allows large regions of multiple individuals’ genomes to be analysed simultaneously, the option of undertaking more comprehensive genomic testing in both malignant and non-malignant haematological disorders has become both practical and affordable. The chapter ‘Application of Next- Generation Sequencing in Haematology’ explores the available sequencing assays, required bioinformatics and variant interpretation as well as the clinical utility and practical considerations of this new technology.
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