Researchers analyzed germline mutations in 256 kidney cancer patients and found mutations that would have been missed, including therapeutically relevant ones.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
The Center for Genomic Interpretation and NSGC want payors to cover confirmatory testing for patients with positive results from 23andMe's FDA-cleared test.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.
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 lawsuits were filed after the HHS OIG subpoenaed the firm as part of an investigation into how it billed Medicare and Medicaid for the myRisk test.
A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.
Prospective panel sequencing on colorectal cancer patients picked up Lynch syndrome with sensitivity and specificity that met or exceeded gene-by-gene tests.
In a commentary at eLife, Brandeis University's Eve Marder calls on researchers to value and pursue truth.
Researchers have developed a way to quickly edit white blood cells, according to the New York Times.
In Science this week: rice gene enables plants to grow quickly in times of flooding, and more.
Education-linked genetic variants could also predict a small portion of a person's social mobility, Newsweek reports.