DATE: October 25, 2017
TIME: 06:00am PDT, 09:00am EDT

This is the third topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’.

Repetitive DNA sequences comprise half of the human genome and include at least 1.6 million short tandem repeats with dark functions and unknown disease implications. Recent genome-wide studies have illuminated thousands of associations of such repeat elements with changes in gene expression. In addition, over 30 Mendelian disorders are known to be caused by triplet repeat expansions. Thus there is a rapidly growing appreciation that repetitive “dark” DNA is discoverable, discernible and diagnostic.

In this webinar, we will discuss:

• How reliable, long-read AmplideX® PCR technology can be combined with the SeqStudio Genetic Analyzer to operationalize the routine detection of established and emerging repeat DNA markers in an easy-to-use assay system

• Data showing sensitive and accurate analyses of GC- and AT-rich repeat expansions and length polymorphisms associated with Fragile X Syndrome, ALS/FTD, Myotonic Dystrophy, Huntington’s Disease, and Alzheimer Disease

• The implications of high-resolution repeat DNA genotyping for scientific and clinical research of neurodevelopmental, neurodegenerative, and neuromuscular disorders

Other topics in the webinar series:

• Introduction to SeqStudio applications
• Extended RAS Research Assay on the SeqStudio Genetic Analyzer
• Genome Editing Confirmation using Sanger Sequencing (upcoming)
• Cell Line Authentication using STR Kits (upcoming)