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hereditary disease

Startup AiLife Diagnostics is contributing its NGS analysis, interpretation, and reporting pipelines to BGI's $600 DNBseq WGS assay.

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.

The planned product, which will target drug-development companies, uses machine learning techniques to predict the outcomes and likelihood of success of clinical trials.

Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.

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.

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The New York Times Magazine examines gender discrimination at the Salk Institute.

Science reports that MD Anderson Cancer Center has dismissed three researchers over foreign tie concerns.

A second death in gene therapy trial for type 1 spinal muscular atrophy is under investigation, according to Reuters.

In PLOS this week: antibiotic resistance patterns in Escherichia coli, a dozen genetic loci tied to varicose vein risk, and more.