Genes, mutations, and human inherited disease at the dawn of the ag...
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):631-55. doi: 10.1002/humu.21260.Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.1, , , , , , , , , .1Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom. CooperDN@cardiff.ac.ukAbstractThe number of reported germline mutations in human nuclear genes, either underlying or associated with inherited disease, has now exceeded 100,000 in more than 3,700 different genes. The availability of these data has both revolutionized the study of the morbid anatomy of the human genome and facilitated "personalized genomics." With approximately 300 new "inherited disease genes" (and approximately 10,000 new mutations) being identified annually, it is pertinent to ask how many "inherited disease genes" there are in the human genome, how many mutations reside within them, and where such lesions are likely to be located? To address these questions, it is necessary not only to reconsider how we define human genes but also to explore notions of gene "essentiality" and "dispensability."Answers to these questions are now emerging from recent novel insights into genome structure and function and through complete genome sequence information derived from multiple individual human genomes. However, a change in focus toward screening functional genomic elements as opposed to genes sensu stricto will be required if we are to capitalize fully on recent technical and conceptual advances and identify new types of disease-associated mutation within noncoding regions remote from the genes whose function they disrupt.Comment inPMID:
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External link. Please review our .Dr. Yong Zhao is an internationally known scholar, author, and speaker. His works focus on the implications of globalization and technology on education. He has designed schools that cultivate global competence, developed computer games for language learning, and founded research and development institutions to explore innovative education models. He has published over 100 articles and 20 books, including Who’s Afraid of the Big Bad Dragon: Why China has the Best (and Worst) Education System in the World, Catching Up or Leading the Way: American Education in the Age of Globalization …
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Originally published in China-US Focus on October 23, 2015. Adapted from my book Who’s Afraid of the Big Bad Dragon: Why China has the Best (and Worst) Education System in the World.
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