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hereditary disease

In a clinical study Baylor researchers found that PreSeek, which Natera markets as Vistara, reliably detected dominant disorders in more than 400 pregnancies.

The firm's fourth quarter preliminary revenues increased by 11 percent to $865 million year over year, while full-year revenues jumped by 21 percent to $3.3 billion.

Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.

The companies will offer free testing to  more rapidly identify individuals with certain mutations, supporting Inozyme's efforts to develop and test new treatments.

Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.

The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.

The firm will provide its genetic testing, counseling, and cascade screening to patients seen at a group of US health systems, focusing on CDC Tier 1 conditions.

The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.

In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.

Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.

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