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NEW YORK – By analyzing DNA sequencing data combined with electronic health record information, researchers have uncovered rare variants that implicate about two dozen genes in conditions like glaucoma and diabetes.

Rare variants may have a greater effect on disease risk, but can be, due to their infrequency, more difficult to study. Using electronic health records and DNA sequencing data collected on nearly 11,000 individuals, researchers from the University of Pennsylvania conducted an exome-by-phenome-wide analysis to uncover gene-phenotype associations.

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Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.

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LGC, Biosearch Technologies

Reduced representation next-generation sequencing (NGS) methods are driving understanding of both physical and structural variation in all species.

Jan
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Sophia Genetics

This webinar discusses how the University of Michigan has implemented a new next-generation sequencing (NGS) capture-based solution to assess myeloid malignancies while minimizing required laboratory resources. 

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BioLegend

Host immune responses play a central role in controlling SARS-CoV-2 infection, but they remain incompletely characterized and understood.