Diagnostic Applications of High-Throughput DNA Sequencing

被引：47

作者：

Boyd, Scott D. ^{[1
]}

机构：

[1] Stanford Univ, Dept Pathol, Stanford, CA 94305 USA

来源：

ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 8 | 2013年 / 8卷

关键词：

genome; exome; Mendelian; cancer; transplant; prenatal; ACUTE MYELOID-LEUKEMIA; METHYLTRANSFERASE GENE EZH2; CELL LUNG-CANCER; GENOME SEQUENCE; MYELODYSPLASTIC SYNDROMES; STRUCTURAL VARIATION; FREQUENT MUTATION; SOMATIC MUTATIONS; PROGNOSTIC IMPACT; MATERNAL PLASMA;

D O I：

10.1146/annurev-pathol-020712-164026

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Advances in DNA sequencing technology have allowed comprehensive investigation of the genetics of human beings and human diseases. Insights from sequencing the genomes, exomes, or transcriptomes of healthy and diseased cells in patients are already enabling improved diagnostic classification, prognostication, and therapy selection for many diseases. Understanding the data obtained using new high-throughput DNA sequencing methods, choices made in sequencing strategies, and common challenges in data analysis and genotype-phenotype correlation is essential if pathologists, geneticists, and clinicians are to interpret the growing scientific literature in this area. This review highlights some of the major results and discoveries stemming from high-throughput DNA sequencing research in our understanding of Mendelian genetic disorders, hematologic cancer biology, infectious diseases, the immune system, transplant biology, and prenatal diagnostics. Transition of new DNA sequencing methodologies to the clinical laboratory is under way and is likely to have a major impact on all areas of medicine.

引用

页码：381 / 410

页数：30

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