In this Discussion Group Report, we investigate some recent applications of long- and short-read sequencing technologies. Continued improvements and advancements in the field mean sequencing errors are increasingly a thing of the past, while the portability of some new units makes them ideal for work in the field.
In this Commentary article, we investigate the application of new research techniques to inspecting genomic data for the presence of de novo variants - genetic alterations present for the first time in one individual as a result of a variant inherited from a parent. Used in combination with data from the 100,000 Genome Project, these techniques could reduce the time taken for patients to receive a diagnosis for rare genetic diseases.
The applications of NGS are swiftly expanding, and new methods for data storage, analysis, and visualisation are needed. However, the complexity of sample processing for NGS has created problems in managing, analysing, and storing the datasets.
Presented by Dr Daniel Roden, Senior Research Officer, Cancer Division, Tumour Progression Laboratory Conjoint Lecturer, St Vincent’s Clinical School, Faculty of Medicine, UNSW Australia
17 November 2020
NGS & Clinical Diagnostics
Search by Keyword
Filter by Subject Area
Filter by Content Type
We produce cutting edge congresses and summits for the Life Sciences Industry, bringing together industry leaders and solution providers at a senior level, creating the opportunity to partner, network and knowledge share.