Close Menu
July 19, 2018
Sponsored by
Thermo Fisher Scientific

Advances in NGS for Ultra-High Sensitivity Applications in Translational and Clinical Research

Genome Webinar

Co-founder & Chief Technology Officer, Amplexa Genetics

 

This webinar discusses how ultra-highly sensitive and customizable targeted next-generation sequencing panels are applied in inherited disease research. In particular, the seminar highlights a study that sought to test the hypothesis that causative genetic variants for inherited diseases that often fall into the category of “de novo mutations” are sometimes the result of undetected mosaicism in the parents.

In this webinar, Hans Atli Dahl, co-founder and chief technology officer at Amplexa Genetics, shares how this study led to the evaluation of the coming soon Ion AmpliSeq HD* targeted NGS solutions from Thermo Fisher Scientific. He shares details of how the Ion AmpliSeq HD* panels address the need for ultra-high sensitive detection and its potential to deliver new insights about the causes of these types of genetic diseases.

Amplexa Genetics, based in Denmark, specializes in clinical genetic testing and clinical variant interpretation associated with a variety of disorders. The company has a long history of NGS analysis in epilepsy and other encephalopathies and recently moved into molecular genetics of endocrine disorders and direct-to-consumer testing for recessive inheritance risk-assessment.

 

For Research Use Only. Not for use in diagnostic procedures.


Sponsored by
Feb
22
Sponsored by
Qiagen

Please join GenomeWeb and Qiagen for an online roundtable discussion where a panel of experts will review challenges and opportunities around genomic variant interpretation workflows in the field of oncology.

Feb
23
Sponsored by
Thermo Fisher Scientific

As the world continues to contend with coronavirus and a surge in the infection rate, labs are required to run more samples than ever before. 

Feb
24
Sponsored by
SCHOTT MINIFAB

Developing a fully integrated consumable cartridge for an automated diagnostic platform is a significant challenge. More challenging still is developing such a cartridge in response to a deadly global virus pandemic amid market uncertainty and extraordinary time constraints.