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In July last year I wrote about some fairly glaring flaws in a paper published in Science on the genetics of extreme longevity. At the time, potential problems with the paper had been flagged in an excellent Newsweek piece by Mary Carmichael.
Today, after a year in advance online limbo without ever progressing to the print edition of the journal, and a formal Expression of Concern last November, the paper was fully retracted. Theres solid coverage of the announcement at the Boston Globe (including quotes from my Genomes Unzipped colleague Jeff Barrett), Nature, and of course the superb Retraction Watch.
Heres the retraction notice in full:
After online publication of our Report Genetic signatures of exceptional longevity in humans (1), we discovered that technical errors in the Illumina 610 array and an inadequate quality control protocol introduced false-positive single-nucleotide polymorphisms (SNPs) in our findings. An independent laboratory subsequently performed stringent quality control measures, ambiguous SNPs were then removed, and resultant genotype data were validated using an independent platform. We then reanalyzed the reduced data set using the same methodology as in the published paper. We feel the main scientific findings remain supported by the available data: (i) A model consisting of multiple specific SNPs accurately differentiates between centenarians and controls; (ii) genetic profiles cluster into specific signatures; and (iii) signatures are associated with ages of onset of specific age-related diseases and subjects with the oldest ages. However, the specific details of the new analysis change substantially from those originally published online to the point of becoming a new report. Therefore, we retract the original manuscript and will pursue alternative publication of the new findings.
In a statement quoted over at Retraction Watch, the journal makes it more clear how the retraction decision was actually reached:
Sebastiani and colleagues submitted the corrected data to Science in December 2010, where the work underwent careful peer-review. Although the authors remain confident about their findings, Science has concluded on the basis of peer-review that a paper built on the corrected data would not meet the journals standards for genome-wide association studies. One such standard, for example, is the inclusion of a reliable replication sample that shows comparable results to those in the initial experiments.
The authors have therefore agreed to retract their paper.
In other words, the authors were still willing to stand by their results, but the journal wasnt.
Questions remain about how the study managed to pass through peer review in the first place virtually every complex trait geneticist I spoke to was immediately, massively skeptical about the articles findings from the moment of publication but it appears that Science has conducted a thorough investigation of the authors amended manuscript and made an appropriate decision. It will be intriguing to see if, when and in what form the studys authors manage to republish their results.
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Longevity genetics study retracted from Science | WIRED
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