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Reversal for Some

Some genetic mutations that have been thought to be harmful are turning out to be innocuous, Nature News reports.

It traces many of these reversals to the development of the Exome Aggregation Consortium (ExAC) by Daniel MacArthur at Massachusetts General Hospital and the Broad Institute in 2012. MacArthur had been studying rare muscle diseases, searching for mutations that might be behind them, but he didn't have enough exome sequences from unaffected people, so he cajoled colleagues to share their datasets with him. This year, MacArthur and his colleagues reported in a Nature paper that through ExAC, they identified 3,200 genes likely involved in human genetic disorders. They also found, though, nearly 200 variants that had been thought to be pathogenic that are not, Nature News notes.

This dataset has also helped researchers like Sonia Vallabh and Eric Minikel who are studying whether a mutation in PRNP that Vallabh has is linked to the prion disease that killed her mother. Using ExAC, they could better gauge if that variant, D178N, has been seen in a healthy population and how rare it is. While they found 52 people in ExAC with PRNP mutations that had been linked to prion disease D178N was not one of them, and it still is likely to cause disease, Nature News says.

The Scan

Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

A pan-cancer paper appearing in JCO Precision Oncology suggests tumor mutation patterns provide clues for predicting cancer survival that are independent of other prognostic factors.

Australian Survey Points to Public Support for Genetic Risk Disclosure in Relatives of At-Risk Individuals

A survey in the European Journal of Human Genetics suggests most adult Australians are in favor of finding out if a relative tests positive for a medically actionable genetic variant.

Study Links Evolution of Stony Coral Skeleton to Bicarbonate Transporter Gene

A PNAS paper focuses on a skeleton-related bicarbonate transporter gene introduced to stony coral ancestors by tandem duplication.

Hormone-Based Gene Therapy to Sterilize Domestic Cat

A new paper in Nature Communication suggests that gene therapy could be a safer alternative to spaying domestic cats.