Sequencing is often associated with the Human Genome Project and celebrated achievements concerning the DNA molecule. However, the history of this practice comprises not only academic biology, but also the world of computer-assisted information management. The book uncovers this history, qualifying the hype and expectations around genomics.

Sequencing is often associated with the Human Genome Project and celebrated achievements concerning the DNA molecule. However, the history of this practice comprises not only academic biology, but also the world of computer-assisted information management. The book uncovers this history, qualifying the hype and expectations around genomics.

"Next-generation DNA sequencing (NGS) technology has revolutionized biomedical research, making complete genome sequencing an affordable and frequently used tool for a wide variety of research applications. This book provides a thorough introduction to the necessary informatics methods and tools for operating NGS instruments and analyzing NGS data"

Sequencing is often associated with the Human Genome Project and celebrated achievements concerning the DNA molecule. However, the history of this practice comprises not only academic biology, but also the world of computer-assisted information management. The book uncovers this history, qualifying the hype and expectations around genomics.

In recent decades, there has been a major shift in the way researchers process and understand scientific data. Digital access to data has revolutionized ways of doing science in the biological and biomedical fields, leading to a data-intensive approach to research that uses innovative methods to produce, store, distribute, and interpret huge amounts of data. In Data-Centric Biology, Sabina Leonelli probes the implications of these advancements and confronts the questions they pose. Are we witnessing the rise of an entirely new scientific epistemology? If so, how does that alter the way we study and understand life—including ourselves? Leonelli is the first scholar to use a study of contemporary data-intensive science to provide a philosophical analysis of the epistemology of data. In analyzing the rise, internal dynamics, and potential impact of data-centric biology, she draws on scholarship across diverse fields of science and the humanities—as well as her own original empirical material—to pinpoint the conditions under which digitally available data can further our understanding of life. Bridging the divide between historians, sociologists, and philosophers of science, Data-Centric Biology offers a nuanced account of an issue that is of fundamental importance to our understanding of contemporary scientific practices.

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Probabilistic models are becoming increasingly important in analysing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analysing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it aims to be accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time present the state-of-the-art in this new and highly important field.