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Take a Call and Make it Better

In new technical report in Nature Genetics, researchers from Harvard Medical School used "population-level concepts to reinterpret the technical features of sequence data that often reflect structural variation," an approach that Dan Koboldt breaks down at his blog MassGenomics. The researchers used three new analytical angles — allele sharing, population heterogeneity, and allelic substitution — to improve calls. "Together with SNP- and small indel-detection algorithms, these approaches will help realize the full potential of population-scale sequencing," Koboldt says.

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.