This is the third topic in the Applied Biosystems SeqStudio Webinar Series, ‘Sanger sequencing and fragment analysis made easy’.

Repetitive DNA sequences comprise half of the human genome and include at least 1.6 million short tandem repeats (STRs) with unknown functions and 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 Applied Biosystems SeqStudio Genetic Analyzer to make routine the 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’s 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 include:

• Introduction to SeqStudio applications (#1)
• Detect low-level somatic mutations in FFPE samples using Sanger sequencing (#2)
• Genome editing workflow facilitated by the Thermo Fisher Scientific portfolio solution (#4)
• Cell line authentication using STR analysis (#5)