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Many companies and counselors see the COVID-19 pandemic as a catalyst for moving germline risk testing into a digital-first healthcare model.
MSK's PathoMAN achieved 94 percent and 81 percent concordance with results from three commercial labs for pathogenic and benign variants, respectively.
Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
Under today's deal, all of UC Health's medical centers will work with GeneDx and have access to more than 400 of the firm's tests for rare hereditary disorders.
GeneDx said it will contribute patient data and analytical tools to the UK's Deciphering Developmental Disorders study.
The company, which is part of Opko Health's BioReference Laboratories, recently hired a new managing director, who plans to expand the firm's market and testing portfolio.
Drug developers and genetic testing firms are contemplating how best to share variant classification data while protecting their commercial interests.
For many patients, the diagnosis led to a change in medical care or management, averted additional diagnostic tests, and facilitated family planning.
Magdalena Walkiewicz from Baylor College of Medicine and Carin Yates from GeneDx presented their labs' initial findings from exome sequencing of fetal DNA samples.
Nature News reports on how meeting cancellations and related costs are affecting scientific societies.
In a new ruling, Canada's Supreme Court upheld the country's genetic non-discrimination law, the Canadian Press reports.
COVID-19 vaccine developers aim to avoid a complication that has affected efforts to develop vaccines for other diseases, the Wall Street Journal reports.
In PLOS this week: analysis of insertions throughout Shigella genomes, antigen production in malaria parasites, and more.