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hereditary disease

During a session at the ASHG 2020 virtual meeting, representatives from both organizations laid out the reasons for their contrasting guidelines.

At ASHG, a FinnGen researcher reported new recessive disease associations for cataracts, hearing loss, and other conditions, identified through the population study.

Based on the results of Project Baby Bear, Rady Children's Hospital-San Diego hopes the State of California will cover rapid whole-genome sequencing going forward.

The suit comes shortly after Progenity filed for an initial public offering in which it is seeking to raise up to $122.6 million.

The Rostock, Germany-based company reported €12.1 million ($13.6 million) in revenues, missing the average analyst estimate of $14.7 million.

The Geisinger National Precision Health Initiative ended in 2019 but its leaders joined Genome Medical to bring genomics-informed care to other health systems.

Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.

Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.

The German company reported its quarterly earnings for the first time as a public company, following the completion of its IPO on Nov. 7.

The company said three clinical centers have validated the test in a prospective clinical trial involving more than 10,000 participants.

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The Washington Post reports that US states and territories are seeking more funding for the distribution of SARS-CoV-2 vaccines.

The strain now accounts for about 80 percent of cases in Wales and Scotland, and about half of cases in England, the Guardian reports.

A new study suggests that using CRISPR to edit human embryonic DNA can lead to the loss of whole chromosomes, as the Associated Press reports.

In Science this week: ancient dog genomes highlight long ties with humans, genomic analysis of 40,000-year-old early East Asian individual, and more.