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Exome as 'Key Step'

Dr. Rick at the DNA Dude blog discusses Jay Shendure and Debbie Nickerson’s paper in this month’s Nature Genetics on identifying the gene for a rare Mendelian disorder called Miller syndrome using exome sequencing. Dr. Rick says that whole genome sequencing is “over-kill” and “provides little useful information in the way of medical genetics.” He adds that “the exome filtering technique provides an exciting model for future studies of rare Mendelian disorders. It’s likely a key step in the long development of personalized medicine.”

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.