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Báo cáo y học: " Genetic determinants of phenotypic diversity in humans"

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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Genetic determinants of phenotypic diversity in humans. | Review Genetic determinants of phenotypic diversity in humans Nazli G Rahim Olivier Harismendy Eric J Topol and Kelly A Frazer Address Scripps Genomic Medicine The Scripps Research Institute North Torrey Pines Road MEM 275 La Jolla CA 92037 USA. Correspondence Kelly A Frazer. Email kfrazer@scripps.edu Published 24 April 2008 Genome Biology 2008 9 215 doi 10.1186 gb-2008-9-4-215 The electronic version of this article is the complete one and can be found online at http genomebiology.com 2008 9 4 215 2008 BioMed Central Ltd Abstract New technologies for rapidly assaying DNA sequences have revealed that the degree and nature of human genetic variation is far more complex then previously realized. These same technologies have also resulted in the identification of common genetic variants associated with more than 30 human diseases and traits. Human genetic variation was named breakthrough of the year by Science in 2007 reflecting the marked advances in understanding the genetic basis of normal human phenotypic diversity and susceptibility to a wide range of diseases. The human genome is composed of 3 billion nucleotides with approximately 0.5 of these nucleotides differing among individuals 1 . This genetic variation the nucleotides that differ from person to person affects the majority of human phenotypic differences from eye color and height to disease susceptibility and responses to drugs. Classification of genetic variants Phenotypic variation in humans is a direct consequence of genetic variation which acts in conjunction with environmental and behavioral factors to produce phenotypic diversity. Genetic variants are classified by two basic criteria their genetic composition and their frequency in the population. In terms of composition polymorphisms can be classified as sequence variants or structural variants. Sequence variants range from single nucleotide differences between individuals to 1 kilobase kb -sized insertions or deletions indels of a segment of DNA .

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