The National Human Genome Research Institute is providing $40 million to fund exome sequencing of patients with Mendelian diseases as part of a larger international effort to eventually understand the genetic basis of all rare diseases.

Last week, the International Rare Disease Consortium met in Bethesda, Md., to discuss a framework for its larger goal of developing diagnostics for all 6,000 to 8,000 known rare diseases and to develop therapies for 200 of those diseases by 2020.

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In PNAS this week: transcript patterns in drug-resistant cancer cells, function of high-altitude adaption gene, and more.

Monitoring gene expression changes could help sniff out athletes using performance-enhancing drugs, New Scientist says.

The University of Southern California lodges a cross-complaint in its legal dispute with the University of California, San Diego, over a large Alzheimer's disease project.

In PLOS this week: gene fusion in premature ovarian failure, population patterns in the Franciscana dolphin, and more.

Sep
17
Sponsored by
Omicia

This online seminar will provide examples of how commercial and hospital-affiliated clinical labs are successfully developing and deploying high-throughput next-generation sequencing-based testing services for genetic diseases. 

Sep
24
Sponsored by
Personalis

This online seminar will outline a targeted enrichment technology to improve next-generation sequencing assays for cancer research and clinical applications. 

Oct
15
Sponsored by
Parabase

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit.