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Inherited Disease

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

The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.

The companies will develop an IVD system based on the MiniSeq initially to diagnose hereditary kidney disease.

The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.

The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.

The clearance enables 23andMe to report on the two most common variations in the MUTYH gene influencing MAP, which increases risk of CRC development.

A group of statisticians want to eliminate researchers' reliance on 'statistical significance,' according to NPR.

Newsweek discusses the privacy issues raised by digital medicine.

In Nature this week: genetic analysis of Anatolian farmers, cotton genome analysis, and more.

Matt Hancock, the UK health secretary, is calling for the swift rollout of predictive genetic tests, the Guardian reports.

Mar
27
Sponsored by
Swift Biosciences

Sequencing workflows require library quantification and normalization to ensure data quality and reduce cost. 

Apr
09
Sponsored by
Sophia Genetics

This webinar will present the utility of a personalized in silico analytical approach for the routine clinical diagnosis of channelopathies and cardiomyopathies. 

Apr
11
Sponsored by
Bionano Genomics

This webinar will review a recent study that applied whole-genome sequencing and optical genome mapping to identify a large number of previously undetected somatic structural variants in leukemia samples.

Apr
30
Sponsored by
Lexogen

This webinar will discuss novel long-read transcript sequencing (LRTseq) methods for transcriptome annotation that could increase the efficiency and accuracy of future sequencing projects.