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Wayne Grody, Bruce Korf

Laura Deming, Joseph Malandrakis, Wayne Grody

Whole-genome analyses are poised to transform pathology and other aspects of medicine, Mark Boguski told attendees at the American College of Medical Genetics meeting this weekend, but require improved resources for interpreting genetic variants.

At the American College of Medical Genetics meeting this week, Illumina UK researcher Mark Ross described how researchers with the Illumina Clinical Services Laboratory are starting to interpret information from individual genome sequences.

At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.

At the American College of Medical Genetics meeting, Boston University researcher Robert Green outlined some of the research strategies needed to move genomics into the clinic.

Some geneticists who use arrays hope the new guidelines, which ACMG updated this month, will prompt other labs to adopt the technology and compel insurance firms to reimburse for the tests.

It remains to be seen whether a market for PCR-based fragile X population screening will soon develop, since mandating newborn testing may be highly dependent on the development of a difference-making therapeutic; and carrier screening will likely continue to rely on a case-by-case cost-benefit analysis.

Some in the clinical genetics community believe the rise of DTC testing offers a prime opportunity to raise awareness of genetics among the general population, despite skepticism about using the tests for clinical decision-making.


A UK study on mixing SARS-CoV-2 vaccines is expanding to include vaccines developed by additional companies, according to the Guardian.

According to Science, the US National Academy of Sciences is poised to eject two members accused of sexual harassment.

In Nucleic Acids Research this week: machine learning approach to detect DNA-bound proteins, CRISPR-based method for activating specific gene targets, and more.

The FDA and CDC call for a pause in administering Johnson & Johnson's SARS-CoV-2 vaccine while reports of rare blood clots are looked into, reports the Wall Street Journal.