By Geoffrey S. Ginsburg, Huntington F Willard PhD
With advancing wisdom of the genome throughout and out of doors protein-coding areas of DNA, new comprehension of genomic edition and frequencies throughout populations, the elucidation of complicated strategic methods to genomic examine, and certainly within the elaboration of next-generation sequencing, genomic drugs has began to accomplish the much-vaunted transformative health and wellbeing results of the Human Genome venture, nearly a decade after its legitimate crowning glory in April 2003.
Genomic and custom-made Medicine 2d version is an immense dialogue of the constitution, background, and purposes of the sector, because it emerges from the campus and lab into scientific motion. As with the 1st version, major specialists evaluation the advance of the hot technological know-how, the present possibilities for genome-based research in healthcare, and the opportunity of genomic medication in destiny healthcare. The inclusion of the most recent details on diagnostic checking out, inhabitants screening, ailment susceptability, and pharmacogenomics makes this paintings an amazing spouse for the various stakeholders of genomic and custom-made drugs.
Over a hundred chapters, from prime researchers, assessment the various affects of genomic discoveries in scientific motion, together with sixty three chapters new to this edition
Discusses cutting-edge genome applied sciences, together with inhabitants screening, novel diagnostics, and gene-based therapeutics
Wide and inclusive dialogue encompasses the bold moral, felony, regulatory and social demanding situations with regards to the evolving perform of genomic medicine
Clearly and wonderfully illustrated with 280 colour figures, and lots of millions of references for additional analyzing and deeper analysis
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Extra info for Genomic and Personalized Medicine, Second Edition: V1-2
Sample text
1c,d) (see Chapters 7, 8, and 9). 1c, most of the genome, therefore, consists of DNA that lies between genes, far from genes, or in vast areas spanning several Mb that appear to contain no genes at all (“gene deserts”). , 2007), it is nearly certain that there are some genes, including clinically relevant genes, that are currently undetected or that display characteristics that we do not currently recognize as being associated with genes. , 2011). These and other considerations have led to the estimate that at most 20% of the genome is of functional importance (Pheasant and Mattick, 2007).
2012), may be related to similar variability observed among X-linked genes in heterozygous females (Carrel and Willard, 2005). This is an area of ongoing study and implicates interactions between genome variation and epigenetic control mechanisms as a determinant of gene expression in the human genome. Genetic Control of Gene Expression Levels It has been appreciated for decades that there is high variability in gene expression levels among individuals. A number of groups have begun to examine this variation as a complex quantitative trait, under genetic control (Cheung and Spielman, 2002).
Most→no effect? (“neutral”) Copy number variants (CNVs) 10 kb to 1 Mb Gene dosage variation→functional consequences? →functional change Most→uncertain effects Inversions Few bp to 100 kb ? break in gene sequence ? long-range effect on gene expression ? indirect effects on reproductive fitness Most→no effect? (“neutral”) Segmental duplications 10 kb to >1 Mb bp = basepair; kb = kilobasepair; Mb = megabasepair. Hotspots for recombination→polymorphism (CNVs) 12 CHAPTER 1 n The Human Genome: A Window on Human Genetics, Biology, and Medicine version of his or her genome, depending on the number of cell divisions that have occurred since conception to the time of sample acquisition.