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Molecular genetic testing methodologies in hematopoietic diseases: current and future methods
Author(s) -
Sridhar Kaushik,
Singh Amol,
Butzmann Alexandra,
Jangam Diwash,
Ohgami Robert S.
Publication year - 2019
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.13024
Subject(s) - molecular diagnostics , computational biology , sanger sequencing , dna sequencing , biology , emerging technologies , dna microarray , bioinformatics , medicine , dna , genetics , computer science , gene , gene expression , artificial intelligence
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 (cf DNA ) or circulating tumor DNA (ct DNA ), 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.