1: To Know Ourselves

AT THE END OF THE ROAD in Little Cottonwood Canyon, near Salt Lake City, Alta is a place of near-mythic renown among skiers. In time it may well assume similar status among molecular geneticists. In December 1984, a conference there, co-sponsored by the U.S. Department of Energy, pondered a single question: Does modern DNA research offer a way of detecting tiny genetic mutations—and, in particular, of observing any increase in the mutation rate among the survivors of the Hiroshima and Nagasaki bombings and their descendants? In short the answer was, Not yet. But in an atmosphere of rare intellectual fertility, the seeds were sown for a project that would make such detection possible in the future—the Human Genome Project

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies. RESULTS: Our analysis of the June 2002 public human genome assembly revealed that 107.4 of 3,043.1 megabases (Mb) (3.53%) of sequence contained segmental duplications, each with size equal or more than 5 kb and 90% identity. We have also detected that 38.9 Mb (1.28%) of sequence within this assembly is likely to be involved in sequence misassignment errors. Furthermore, we have identified a significant subset (199,965 of 2,327,473 or 8.6%) of single-nucleotide polymorphisms (SNPs) in the public databases that are not true SNPs but are potential paralogous sequence variants. CONCLUSION: Using two distinct computational approaches, we have identified most of the sequences in the human genome that have undergone recent segmental duplications. Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve

Student faculty forum: Human genome editing

Join us in discussion of the science behind the revolution in reading and manipulating the genome, possibilities for the future, and the ethical and legal issues in the field of genomics. Special guests include: Gustavo Mostoslavsky, Assoc. Professor of Medicine; Shoumita Dasgupta, Assoc. Professor of Medicine; Wilson Wong, Asst. Professor of Enginnering; and Russell Powell, Asst. Professor of Philosophy. Dr. Virginia Sapiro will moderate.Boston University Howard Thurman Center for Common Groun

Origins of the Human Genome Project

Dr. Cook-Deegan recounts some of the scientific and political history leading to controversy about the proper mix of private and public roles in pursuing genome research and bringing its fruits to bear, e.g., in preventing and curing disease

Promoting and Managing Genome Innovation

An introduction to the symposium, Promoting and Managing Genome Innovation held October 1995. The conference was organized by Professor Thomas G. Field, Jr. and Gianna Julian-Arnold. The conference was funded in part by the Ethical, Legal and Social Issues component of the D.O.E. Human Genome Program; Nixon, Hargrave, Devans & Doyle L.L.P., Rochester, N.Y.; and Human Genome Sciences