Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.

Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.

The National Institutes of Health Commercial Accelerator Program helps small healthcare and life science companies bring their products to market.

Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.

A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.

Researchers describe a way to share data while keeping it secure, Agence France Presse reports.

In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.

India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.

A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.

Nov
07
Sponsored by
Qiagen

This webinar will provide a first-hand look at how a leading pathology lab implemented a next-generation sequencing panel to capture comprehensive molecular tumor profiles.

Nov
27
Sponsored by
Genialis & Roche

While next-generation sequencing (NGS) has driven recent advances in precision oncology research, it often falls short when identifying the molecular mechanisms underlying many malignancies. As a result, alternative NGS-based approaches are needed to identify oncogenic drivers and potential drug targets.