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CNV

An analysis of copy number changes and genomic rearrangements in more than 100 tumors suggests chromothripsis may contribute to pancreatic cancer evolution.

The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.

The study found that combining whole-genome expression or genome-wide methylation data with clinical data improves survival predictions in breast cancer cases.

Diploid is focusing first on CNV analysis, annotation, and interpretation and plans to launch at least one more product for the space this year. 

Three duplications appear to affect HOXB8 expression levels in the facial skin of chickens to give them a bearded look, researchers have found.

At the American Society of Human Genetics meeting, researchers discussed de novo and rare variants found in those with Tourette syndrome.

The firm is developing new applications for the technology, including one that will integrate targeted panels and copy number analysis into a single assay.

Under the terms of the agreement, OGT will be able to use data from the developmental disorders studies to develop new arrays

Moving Target: CNVs in Disease

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More and more research is linking CNVs to disease. It's not only changing the way scientists study disease, but also how clinicians diagnose it.

Agilent's Human CNV Association 2x105K microarray, based on a design by the Wellcome Trust Case Control Consortium, is the company's second catalog CNV chip and was designed for studying associations between genomic CNVs and disease.

In Science this week: metagenomic-based technique for determining protein structure, and more.

An academic laments the rise of narcissism in the sciences, the Guardian reports.

Outgoing FDA commissioner Robert Califf writes in an editorial that the agency can help boost innovation.

The Trump transition team has asked NIH Director Francis Collins to remain at his post, though it's unclear for how long that will be.