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hereditary cancer

With panel sequence data from Ambry's clinical lab and a TNBC research consortium, researchers saw risky hereditary variants in BRCA1/2 and other genes.

Researchers led by MD Anderson’s Karen Lu want to know the most efficient genetic counseling strategy as more people are getting screened for cancer risk genes.

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.

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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.