ABCs of genomics

作者：Bohlander Stefan K^*

来源：Hematology / The Education Program of the American Society of Hematology. American Society of Hematology. Education Program, 2013, 316-323.

Our genome, the 6 billion bp of DNA that contain the blueprint of a human being, has become the focus of intense interest in medicine in the past two decades. Two developments have contributed to this situation: (1) the genetic basis of more and more diseases has been discovered, especially of malignant diseases, and (2) at the same time, our abilities to analyze our genome have increased exponentially through technological breakthroughs. We can expect genomics to become ever more relevant for day-to-day treatment decisions and patient management. It is therefore of great importance for physicians, especially those who are treating patients with malignant diseases, to become familiar with our genome and the technologies that are currently available for genomics analysis. This review provides a brief overview of the organization of our genome, high-throughput sequence analysis methods, and the analysis of leukemia genomes using next-generation sequencing (NGS) technologies.

• 出版日期2013-12