Application of Next Generation Sequencing in Laboratory Medicine

Zhong Yiming; Xu Feng; Wu Jinhua; Schubert Jeffrey; Li Marilyn M.

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자료유형: 학술저널

저자정보: Zhong Yiming (Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia Philadelphia) Xu Feng (Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia Philadelphia) Wu Jinhua (Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia Philadelphia) Schubert Jeffrey (Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia Philadelphia) Li Marilyn M. (Department of Pathology & Laboratory Medicine Children’s Hospital of Philadelphia Philadelphia)

저널정보: 대한진단검사의학회 Annals of Laboratory Medicine Annals of Laboratory Medicine 제41권 제1호

발행연도: 2021.1

수록면: 25 - 43 (19page)

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The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation, has facilitated its wide clinical application in precision medicine. This review describes current sequencing technologies, including short- and long-read sequencing technologies, and highlights the clinical application of NGS in inherited diseases, oncology, and infectious diseases. We review NGS approaches and clinical diagnosis for constitutional disorders; summarize the application of U.S. Food and Drug Administration-approved NGS panels, cancer biomarkers, minimal residual disease, and liquid biopsy in clinical oncology; and consider epidemiological surveillance, identification of pathogens, and the importance of host microbiome in infectious diseases. Finally, we discuss the challenges and future perspectives of clinical NGS tests.

#Next-generation sequencing #Oncology #Constitutional disorders #Infectious diseases

참고문헌 (233)

참고문헌 신청

Goodwin S / 2016 / Coming of age: ten years of next-generation sequencing technologies / Nat Rev Genet 17:333~351

Schwarze K / 2020 / The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom / Genet Med 22:85~94

Lalonde E / 2017 / Clinical impact of genomic information in pediatric leukemia / Front Pediatr 5:263

Gutowska-Ding MW / 2020 / One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants / Eur J Hum Genet 28:202~212

Gwinn M / 2019 / Next-generation sequencing of infectious pathogens / JAMA 321:893~894

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