org, also works to disseminate genomic technology and knowledge at a global level,

thereby producing tangible and widely available improvements in the understanding and management of human health and disease. The PGP also finds itself at the forefront of discourse surrounding the ethical, legal, and social issues (ELSI) associated with large-scale whole-genome sequencing, particularly in the areas of privacy, informed consent, and data accessibility. The PGP is, and is intended to be, a research project that is constantly in progress, exploring the boundaries of human genomic Inhibitors,research,lifescience,medical research in a way that produces maximal advances in scientific understanding and public understanding and well-being, while striving to reach beyond what is minimally required to satisfy its ethical, legal, and social obligations Inhibitors,research,lifescience,medical to its participants. In the sections that follow we report on unique aspects of the

PGP relating to technology development, integrative genomics, and human subject research protocols, as well as describe the development and current state of the PGP. Key developments in human genome sequencing The PGP derives its impetus and importance from historic breakthroughs in understanding and analysis Inhibitors,research,lifescience,medical of DNA. DNA comprises only a very small fraction of a cell (~3% dry weight E. coli), and its role as the molecule primarily responsible for transmission of genetic traits was not recognized until a series of discoveries beginning in the 1940s. The emergence in 1953 of a clear concept of DNA as a double-helical Inhibitors,research,lifescience,medical structure comprising a pair of complementary strings of four elementary bases (the nucleotides A, C, G, and T) crystallized interest in determining the DNA Inhibitors,research,lifescience,medical sequences of genes and the Rucaparib manufacturer sequence differences responsible for disease, and set the stage for over four decades of development of ever more efficient

and comprehensive sequencing methods. Table II describes this history by a set of milestones that take one from the early beginnings of DNA sequencing up through delivery of draft human genome sequences in 2001 to 2003. In the 38 years between 1965, when Robert Holley and colleagues at Cornell and the US Department of Agriculture sequenced a 77 nt RNA gene after 4 years of effort, and 2003, when the public Human Genome Project (HGP) declared that it had met its tuclazepam goals regarding delivery of a ~3Gbp human genome sequence, the size of DNA sequence that could be accommodated by sequencing technology improved ~30 million-fold. Table II Development of DNA sequencing. Post-HGP sequencing – towards whole diploid genomes Notably, the HGP had delivered only a single human genome sequence that was a composite built from a small number of deidentified individuals, while the competing nonpublic human genome project merged in data from an identified individual (Craig Venter); both were haploid estimates.