Textbook of Personalized Medicine - Second Edition [2015]

xxxix Abbreviations ACE Angiotensin-converting enzyme ADME Adsorption, distribution, metabolism, excretion ADR Adverse drug reac ...

xl MS Mass spectrometry mtDNA Mitochondrial DNA MTHFR Methylenetetrahydrofolate reductase NCI National Cancer Institute NGS Next ...

K.K. Jain, Textbook of Personalized Medicine, DOI 10.1007/978-1-4939-2553-7_1, 1 © Springer Science+Business Media New York 2015 ...

2 The term “genomic medicine” implies that the sequencing of the human genome has enabled the practice of medicine to enter an e ...

3 treatments are given to the right patients at the right time. Personalized medicine is become a reality with the sequencing of ...

4 Table 1.2 Landmarks in the historical development of personalized medicine Era/year Medical system/concept 10,000 years ago Pr ...

5 It is obvious that the progress made during the past few decades surpasses that made in the whole of previous medical history. ...

6 Molecular Biological Basis of Personalized Medicine Although several factors are involved in the development of personalized m ...

7 the controlling regions appeared to be far from the genes they affect. Now ENCODE researchers have discovered that small segme ...

8 Chromosomes X and Y are the sex chromosomes. Each man carries an X chromosome and a Y chromosome. Every woman carries two X ch ...

9 cell to another. Gene expression can be detected by various techniques described in Chap. 2. The discovery that eukaryotic gen ...

10 Genetic Variations in the Human Genome Human genome rearrangements can occur by several mechanisms that include both recombin ...

11 Drug discovery Prediction of adverse effects of drugs Prediction of drug effi cacy Copy Number Variations in the Human Geno ...

12 disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. They also demonstrated t ...

13 Although CNVs confer a risk of disease, they may not be suffi cient by themselves to lead to a specifi c disease outcome, lea ...

14 human genome with an average density of one INDEL per 7.2 kb of DNA. Variation hotspots were identifi ed with up to 48-fold r ...

15 The size of genomes isolated from mouse liver tissues increases with age, peaking at 5 weeks and the copy number of several r ...

16 there are variants in which part of a gene is deleted or sequences from two genes are fused together without destroying the c ...

17 The SV study used custom Agilent microarrays to assess the copy number status of the unannotated sequences by array comparati ...

18 According to the authors, the most important thing is not to focus disproportionately on specifi c variants, but rather to in ...