Genomics in the Scientific Literature [28] - Other

Genomics in the Scientific Literature
Topics in the Scientific Literature

Other
1. Personal genomes in progress: from the human genome project to the personal genome project
Lunshof JE, et al.
Dialogues Clin Neurosci 2010;12(1):47-60

Dialogues Clin Neurosci. 2010;12(1):47-60.

Personal genomes in progress: from the human genome project to the personal genome project.
Lunshof JE, Bobe J, Aach J, Angrist M, Thakuria JV, Vorhaus DB, Hoehe MR, Church GM.

European Centre for Public Health Genomics, FHML, Maastricht University, Maastricht, The Netherlands.

Abstract
The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007--even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polylmorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics.

PMID: 20373666 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20373666?dopt=Abstract



2. Single gene disorders come into focus--again
Ropers HH
Dialogues Clin Neurosci 2010;12(1):95-102

Dialogues Clin Neurosci. 2010;12(1):95-102.

Single gene disorders come into focus--again.
Ropers HH.

Max Planck Institute for Molecular Genetics, Berlin, Germany. ropers@molgen.mpg.de

Abstract
In the early 1990s, when the second 5-year plan for the Human Genome Project-which requested more money than any previous research project in biology-was written, common disorders were presented as the future target of genome research. This was a clever move to ensure continued public support for this endeavor, which had been justified previously by the prospect that it would lead to the diagnosis, prevention, and therapy of severe, but mostly rare, Mendelian disorders. Today, more than 15 years later, after billions of dollars have been spent on genome-wide association studies (GWAS), very few major genetic risk factors for common diseases have been identified, and the enthusiasm for large GWAS is dwindling. At the same time, there is renewed interest for studying single gene disorders, which are now considered by some as a better clue to the understanding of common diseases. While this is probably true, Mendelian disorders are also important in their own right, since they must be far more common than generally thought. As discussed here, various efficient strategies exist for the elucidation of single gene defects, and their systematic application in combination with novel genome partitioning and massive parallel sequencing techniques, will have far-reaching implications for health care.

PMID: 20373671 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20373671?dopt=Abstract