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The Technology Pilot

If you've been wondering how the 1,000 Genomes Project is doing, here's an account from Dan Koboldt at his MassGenomics blog about last week's meeting at Baylor where participants discussed the "Pilot 3" phase of the project. "Unlike pilots 1 and 2, which emphasized whole genome sequencing to low or high coverage, respectively, in Pilot 3, the exons of 1,000 genes (~1.5 Mbp total) were selectively targeted for sequencing by capture technologies," Koboldt writes. The team is also checking data across platforms and pipelines. "Overall, the Pilot 3 variant calls are looking good - dbSNP concordances in the 70-80% range or higher, and transition/transversion ratios of about 3-3.50 - and consistent across 454 and Solexa data from multiple centers," he writes.

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.