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The firm plans to conduct a prospective trial of a pan cancer assay and aims to bring another assay focused on colorectal cancer through FDA clearance.
Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.
Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.
The company presented Color Data as a resource for variant classification scientists and hopes it will inspire industry peers to similarly share data.
The companies plan to combine Nashville's BioVU biobank of 250,000 DNA samples and 2.8 million patient records with GeneWiz's sequencing services.
The year brought more FDA approvals for molecularly targeted drugs and NGS tests for personalizing cancer treatment, but reimbursement remained a stress point for industry.
The project has identified carrier variants in 109 infants so far — a total of 232 variants in 166 genes — according to a presentation at ASHG today.
According to survey results presented at ASHG, most genetics experts support somatic and germline gene editing, though few favor trait enhancement.
MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
The statement recommends that germline genome editing in humans not culminate in pregnancy, but supports in vitro research into potential clinical applications.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.
Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.