Tag Archive for 'genomics'

The ENCODE project: lessons for scientific publication


The ENCODE Project has this week released the results of its massive foray into exploring the function of the non-protein-coding regions of the human genome. This is a tremendous scientific achievement, and is receiving plenty of well-deserved press coverage; for particularly thorough summaries see Ed Yong’s excellent post at Discover and Brendan Maher at Nature.

I’m not going to spend time here recounting the project’s scientific merit – suffice it to say that the project’s analyses have already improved the way researchers are approaching the analysis of potential disease-causing genetic variants in non-coding regions, and will have an even greater impact over time. Instead, I want to highlight what a tremendous feat of scientific publication the project has achieved.
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Responsible and effective use of personal genomes

This is the final of three posts from panellists in the Race to the $1000 Genome session today at the Cheltenham Science Festival – this time by Genomes Unzipped’s own Caroline Wright.

As the previous posts from Clive Brown and Adam Rutherford have indicated, there has long been enormous hype and hope surrounding the human genome project and the prospect of a $1000 genome. But what do these developments really mean for the general public? What do we need to know – either as individuals or as health care providers – before we can decide whether it’s worth having a genome sequenced?

Before starting to unpick some of the issues involved in the responsible and effective use of personal genome sequences, it’s worth reviewing how, where and why someone might actually have their genome sequenced. There are currently essentially three different and nonequivalent contexts in which an individual could have their genome sequenced:
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