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genetic risk variants

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.

Centogene opened a Boston office in December and plans to open a lab there in a few months as it awaits an FDA decision on its clinical tool.

Investigators came up with a 182-variant risk score for early-onset coronary artery disease, which they tested on SNP data from UK Biobank participants with or without the condition.

The award is one of 121 for projects in New York City this year, totaling $64.8 million.

At the San Antonio Breast Cancer Symposium, Myriad reported on the ability of its 86 SNP score to predict disease risk for the majority of women of European ancestry.

The developers said that their multivariant analysis does a better job than using APOE E4 alone at identifying those at greatest risk of developing Alzheimer's. 

In a study of genetic variants associated with glycated hemoglobin in a meta-analysis, researchers found a G6PD variant leading to deceptively low blood sugar levels.

The company has made agreements with two cancer diagnostics firms — GenomeDx, and Cynvenio — bundling its hereditary germline analysis with their somatic tests.

Over the next month the company plans to expand its preconception screening test, which it launched widely earlier this year, by adding about 90 X-linked disorders. 

The addition of the patient-facing family history platform will expand and enhance Invitae's existing genome management support services, the company said.

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