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A Variant Here, But Not There

David Basanta at Cancerevo: Evolution and cancer picked up on a Human Mutatation paper from Bruce Gottlieb and his colleagues that studied the genetic influences on abdominal aortic aneurysms. The researchers found BAK1 SNPs in aneurysmic and healthy tissue without seeing them in the corresponding blood samples. From this, Gottlieb and his colleagues "propose a novel hypothesis postulating that multiple variants of genes may preexist in 'minority' forms within specific nondiseased tissues and be selected for, when intra- and/or extracellular conditions change." This raised a lot of questions in Basanta's mind. He wonders: "How would this affect personalised treatments (i.e. based on doing a genomic analysis of the patient)? Does that mean that finding genetic differences in a cell (when compared with cells in other tissues) does not necessarily constitute cause for alarm (as it does not have to be the result of somatic mutations)?"

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.