Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Every instance of a variant in the human genome causing or correlated with a trait deserves to be databased and analyzed. As a consequence of rapidly evolving technology and strategies, more of the mutational spectrum of human disease is now accessible to research. Advised by our referees' progressively higher standards, we continue to select the most informative and useful results.
How can we get more therapies into preclinical testing and increase the proportion that succeed in preclinical testing? How can we increase the efficacy of therapies? How can we ensure that therapies are developed for rare diseases?
Fostering scientific progress and ensuring that the community has access to human exome data can be difficult to do when faced with the divergent interests of patients, data generators, data funders and potential data users. We support the archiving of sensitive datasets in secure repositories with appropriate mechanisms in place to control access.
The US Department of Health and Human Services (DHHS) is proposing to enhance federal regulation intended to protect human research subjects, in particular to increase measures aimed at security of personal data. Since the ethical review process is partially based on respect for people and their autonomy, harmonization of these rules will be a process of convincing individuals and their states to accept uniform standards that give enough privacy but do not lock away personal data from either research participants or researchers.
Although Nature Genetics generally urges authors to keep their claims within the research arena, basic research occasionally turns up results that are ready for immediate application. In these cases we aim to assign some peer referees familiar with the needs of policy makers and to provide accompanying commentary that puts the research into an appropriate societal perspective.
Our first Nature Conference in China emphasized the value of extending genome-wide association studies (GWAS) to populations worldwide as a way to promote cooperation and high standards in research while gaining a wealth of biological insights into common and complex diseases and traits.
Community review of proposed standards is a good strategy to broaden consensus on ways to conduct principled, ethical and efficient research. We are pleased to welcome new partners for our Nature Precedings Data Standards initiative and suggest other standards that could be usefully presented as citable preprints.
More data than we can handle is no excuse to give up our efforts to promote data access, but it may make us think about new ways to make it sustainable.
The first Human Variome microattribution review shows that data citation and publication credit can work as incentives for systematic curation of gene variant and phenotype data. Analysis of the formal assertions in both databases and journal articles argues for better separation of data structures from narrative so that they can better support one another to communicate meaning.
The substantial $10 million purse of the Archon Genomics X PRIZE (AGXP) is being offered for the generation of rapid, accurate and complete human DNA sequences. Because so many genomics researchers have a stake, we offer to help with a process of community consultation to help evolve fair and efficient methods to validate contestant data for the competition.
As genome sequencing becomes more versatile and easier, the journal prioritizes those genomic sequences that maximize the prospects of harnessing genome variation and understanding evolutionary processes.
