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Inherited Disease

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

The service is the first of its kind in the UK and relies on the Illumina NovaSeq 6000 platform to deliver results.

Most of the disease risk carriers identified in the Healthy Nevada Project did not meet clinical guidelines for screening, according to the new analysis.

The coverage comes after the women's health diagnostics firm went public last month, seeking up to $100 million in the offering.

The Rostock, Germany-based company reported €12.1 million ($13.6 million) in revenues, missing the average analyst estimate of $14.7 million.

The test has been developed to run on Illumina's NextSeq 550Dx next-generation sequencing platform and will be prepared for commercial launch in Europe.

A new analysis suggests warming, not the arrival of humans, led to the extinction of the woolly rhinoceros thousands of years ago, the Economist reports.

Chinese health officials uncovered SARS-CoV-2 viral RNA on imported frozen food, but the New York Times reports catching COVID-19 that way would be unlikely.

The UK has ordered 60 million coronavirus vaccine doses from Novavax and 30 million doses from Janssen, according to the Guardian.

In Science this week: machine learning model predicts whether ion channel mutations will cause disease, and more.

Aug
27
Sponsored by
Cellecta

Over 70 percent of breast cancers are estrogen receptor positive and are treated with endocrine therapy.

Sep
01
Sponsored by
Roche

This webinar will address the utility of exome sequencing for neurodevelopmental disorders research and will provide details of a comparison study of two exome probe kits in this field of study.

Sep
17
Sponsored by
Thermo Fisher Scientific

The prevalence of developmental disability among US children aged 3 to 17 years increased between 2009 and 2017, with as many as 1 in 6 children in the US reported to have a developmental disability diagnosis.

Sep
23
Sponsored by
Beckman Coulter

This webinar will discuss a streamlined library preparation method for next-generation sequencing (NGS) that improves quality control testing capability while reducing the total number of steps compared to conventional multiplexed library workflows.