1. Molecular genetic testing methodologies in hematopoietic diseases: current and future methods
- Author
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Kaushik Sridhar, Amol Singh, Diwash Jangam, Alexandra Butzmann, and Robert S. Ohgami
- Subjects
medicine.medical_specialty ,Clinical Biochemistry ,Computational biology ,030204 cardiovascular system & hematology ,Biology ,Polymerase Chain Reaction ,DNA sequencing ,law.invention ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,law ,Molecular genetics ,medicine ,Humans ,Gene ,Polymerase chain reaction ,Sanger sequencing ,Molecular pathology ,Biochemistry (medical) ,High-Throughput Nucleotide Sequencing ,Hematology ,General Medicine ,Hematologic Diseases ,Infectious disease (medical specialty) ,symbols ,DNA microarray ,Cell-Free Nucleic Acids ,030215 immunology - Abstract
Introduction Rapid technological advancements in clinical molecular genetics have increased our diagnostic and prognostic capabilities in health care. Understanding these assays, as well as how they may change over time, is critical for pathologists, clinicians, and translational researchers alike. Methods This review provides a practical summary and basic reference for current molecular genetic technologies, as well as new testing methodologies that are in use, gaining momentum, or anticipated to contribute more broadly in the future. Results Here, we discuss DNA and RNA based methodologies including classic assays such as the polymerase chain reaction (PCR), Sanger sequencing, and microarrays, to more cutting-edge next-generation sequencing (NGS) based assays and emerging molecular technologies such as cell-free DNA (cfDNA) or circulating tumor DNA (ctDNA), and NGS-based detection of infectious disease organisms. Conclusion This review serves as a basic foundation for knowledge in current and emerging clinical molecular genetic technologies.
- Published
- 2019
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