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Are You Sure?

In Nature last week, Massachusetts General Hospital's Daniel MacArthur wrote an opinion article saying false positives are a given in genomic research. Researchers and journals are eager to publish interesting results, he said, however, "two processes conspire to delude ambitious genomicists" — one being the size of the genome, which causes unusual events to occur frequently and the second being the nuances of high-throughput technology, which can lead to errors that can be misinterpreted.

At The Mermaid's Tale, Penn State's Ann Buchanan says the fact that journals are issuing lots of retractions is evidence that "often results are simply wrong, either for technical reasons or because statistical tests were inappropriate, wrongly done, incorrectly interpreted or poorly understood." And although peer review catches some of these mistakes, reviewers and journal editors aren't getting all of them, she says. Added to that is the pressure to publish, which can sometimes make even the most exacting researcher overlook what may be red flags. What's needed in research, Buchanan says, is a "healthy skepticism."

"You don't have to work with online genomic databases very long before it becomes obvious — at least to the healthy skeptic — that you have to check and recheck the data," she adds.

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.