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Searching for Recurrent Mutations

Elaine Mardis and her colleagues at Washington University in St. Louis sequenced the genome of a man with acute myeloid leukemia using Illumina's Genome Analyzer II and identified 64 mutations, according the report in the New England Journal of Medicine. Of those, 12 were somatic mutations in coding regions and 52 were somatic point mutations in conserved or regulatory regions. Four of the mutations also occurred in at least one other AML sample that had also been tested and two of these were already known mutations. In a statement, senior author Timothy Ley says, "Only by sequencing complete genomes of cancer patients are we going to find unexpected, recurring genetic mutations that are highly likely to be important for cancer to develop and grow."

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.