hereditary disease

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 combine their respective technologies to create a platform for discovering and developing drugs for certain genetic diseases.

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.

At the Precision Medicine World Conference this week, researchers discussed how they plan to return genomic results to participants of research-focused sequencing studies.

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.

Pages

This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.

The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.

Researchers find that people's genetics influence their success at university, but that it is not the only factor.

In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.