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Oxford Nanopore Technologies: Bonito CRF, SV Pipeline 2.0, DeepVariant

Oxford Nanopore Technologies has released a number of new and updated analysis tools and products. Bonito CRF, a new basecalling algorithm currently available for early users, improves modal raw-read accuracy to 98.3 percent on internal validation sets. The new SV Pipeline 2.0 increases structural variation calling precision to 97.5 percent and recall to 95.5 percent. The new DeepVariant tool, when paired with the existing Medaka tool, identifies SNPs with 99.92 percent recall and precision. The company also said it is commercially releasing the R10.3 flow cells for use with the high-throughput PromethIon sequencer and the low-throughput Flongle sequencing adapter.

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.