ACMG

At the ACMG annual conference in Phoenix last week, several labs and companies discussed their efforts in healthy genome sequencing.

Using monogenic diabetes registry examples, a University of Chicago researcher argued that appropriate genetic testing is needed to detect monogenic diabetes.

The organization cited ethical concerns and technological limitations surrounding CRISPR and other gene-editing approaches.

The group published a position statement today advocating for "extensive" sharing of lab and clinical data in order to improve treatment of patients.

The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.

An ACMG workgroup has added four new genes, removed one gene, and said it would open up the nomination process to the broader community and consider PGx genes.

In a new AMP working group project, labs can volunteer to compare their interpretation of challenging variants to help identify where and how the guidelines might be improved.

The revisions, which are subject to approval by the ACMG board of directors, will likely involve the addition of five genes and the removal of one gene from the list.

The foundation, which was established by the American College of Medical Genetics and Genomics, will use the money to fund fellows' salaries and research.

In a pilot study published in AJHG, nine labs initially agreed for only 34 percent of variants, but for 71 percent after discussing the evidence and use of guidelines in detail.

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Dog DNA testing finds that some purebreds might not truly be purebreds, Inside Edition reports.

Mary Beckerle has returned as director of the Huntsman Cancer Institute, according to ScienceInsider.

Smithsonian Magazine reports that environmental DNA sampling can be used to track elusive organisms.

In Genome Research this week: repetitive satellite DNA in the fruit fly, transcriptome map assembly pipeline, and more.