Genomics in permanent revolution
نویسنده
چکیده
John Sulston, who coordinated the UK side of the international publicly funded efforts to sequence ‘the’ human genome, once said the endeavour was like a moon shot. He may only have referred to the scale and ambition of the project, but one could argue that, in both cases, outdated technology and extraordinary amounts of money were used to hit a highly visible and prestigious target, just to show that one can do it. In both cases, the benefits remained rather limited. While the moon landings turned into a picturesque blind alley of human exploration, the really useful work in human genomics only started after the first human genome was mostly complete. Like the moon landings, the human genome project used technology that had essentially been available for decades. In this case, it was the chain termination sequencing method, which Frederick Sanger developed around 1975, and which earned him his second Nobel Prize in 1980. It was made more efficient later when the read-out of radioactive labels from a slab gel was replaced by fluorescence marking (with different colours indicating As, Cs, Gs and Ts) and capillary electrophoresis. Sanger’s principle, however, remained in place, and its Achilles’ heel is the fact that every single position of the sequence to be read has to be represented by a population of DNA molecules that ends with this position. Hence, the amount of DNA required is much larger than the minimal number of molecules that can be detected by the read-out technique. The theoretical minimum is the detection limit times half the length of the sequence to be determined in one run (which is the average length of the fragments if you have equal numbers of fragments ending at each position). This principle, while tolerable in small sequencing projects, is what made the human genome project astronomically expensive. If sequencing genomes were ever to become useful, one had to get out of the chain termination principle. And ideally one would also want to achieve what cells have been doing for billions of years, namely read individual DNA molecules rather than populations of thousands.
منابع مشابه
Precision Medicine: A New Revolution in Healthcare System
Every human being is different based on genetics, lifestyle, and environmental factors. Novel medical technologies have become more precise owing to molecular information, including genomics, transcriptomics, proteomics, metabolomics, etc. The “omics” technologies have opened up new horizons for healthcare systems, enabling them to prevent and/or diagnose diseases more precisel...
متن کاملRace, Genomics, Identities and Politics in Contemporary Brazil
The ‘new genetics’ (or genomics) has penetrated overwhelmingly into a broad range of domains in the contemporary world, spawning a technocultural revolution in relation to genes that has transformed technologies, institutions, practices and ideologies. The ‘new genetics’ has not only reshaped the biological, cultural and social loci in the immediate surroundings of individuals, but also reconfi...
متن کاملTransgenic Plants as a Tool for Plant Functional Genomics
Functional genomics aim to discover the biological function of particular genes and to uncover how sets of genes and their products work together. Transgenic plants are proving to be powerful tools to study various aspects of plant sciences. The emerging scientific revolution sparked by genomics based technologies is producing enormous amounts of DNA sequence information that, together with pla...
متن کاملKnowledge discovery in gene-expression-microarray data: mining the information output of the genome.
A key aspect of the genomics revolution is the transformation of large amounts of biological information into an electronic format, leading to an information-based approach to biomedical problems. Large-scale RNA assays and gene-expression-microarray studies, in particular, represent the second wave of the genomics revolution, providing gene-expression data that complement gene-sequence data an...
متن کاملBacterial Genomics and Pathogen Evolution
The availability of hundreds of bacterial genome sequences has altered the study of bacterial pathogenesis, affecting both design of experiments and analysis of results. Comparative genomics and genomic tools have been used to identify virulence factors and genes involved in environmental persistence of pathogens. However, a major stumbling block in the genomics revolution has been the large nu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Current Biology
دوره 21 شماره
صفحات -
تاریخ انتشار 2011