Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

A map of life: An epistemological study of the Human Genome Project

Based on research primarily conducted in a molecular biology laboratory working on the Human Genome Project (HGP), this dissertation focuses-upon how genomic research, as an emerging form of scientific knowledge, stands to affect the fashioning of subjectivity. This study argues that as a biomedical project which claims to be capable of understanding "what it means to be human," the HGP stands to have profound consequences upon the way in which modern subjects know themselves. The life sciences have increasingly moved away from the mastery of nature towards knowledge and control over human nature. The HGP represents an emerging model in which human nature and life have become objects and categories of knowledge and control for the life sciences. The focus of this project is the investigation of how the HGP incorporates an understanding of human nature and life into its realm of study and how that knowledge in turn is incorporated into the understanding human beings have of themselves. This research centers upon the HGP as the site in which to draw out, counterpose and resolve some of the issues at stake in the scientific remaking of human subjects. The HGP represents an expansion of the domain of the life sciences into the control of life itself and the psychological as well as material expression of that life in human beings, known as human nature. Finally, this study characterizes the HGP as a biomedical research project that is essentially religious in how it perceives itself and claims to provide ultimate knowledge on being human. This project argues that such knowledge is religious and therefore inaccessible through modern science. Therefore it questions the ability of the HGP to provide valid knowledge on the ultimate understanding of human beings through religious, philosophical and scientific discourses that contest and subvert this claim