CHICAGO (GenomeWeb) – Alexion Pharmaceuticals is teaming with sequencing and informatics startup Sema4 in an effort to improve diagnosis of rare diseases and speed drug discovery.

Sema4, a spinout from Mount Sinai Health System in New York, will bring its knowledge in next-generation sequencing and genome interpretation to Alexion's SmartPanel precision medicine platform, the two companies announced this morning.

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The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

NPR reports that with medical data being big business, some companies want to get patients involved.

In PNAS this week: optical mapping allows glimpse of structural variants, disease-linked GATA2 mutations boosts its protein activity, and more.

Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.

Nov
05
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Sophia Genetics

With the Next Generation Sequencing (NGS), genomes sequencing has been democratized over the last decades with the detection of genomic alterations, thus replacing Sanger sequencing.