OCT 25, 2017 6:00 AM PDT

WEBINAR #3: Enabling neurological disease research via DNA fragment analysis on the new SeqStudio genetic analyzer

Sponsored by: Thermo Fisher Scientific
Speaker

Abstract

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:


Show Resources
You May Also Like
MAY 17, 2022 9:00 AM PDT
MAY 17, 2022 9:00 AM PDT
Date: May 17, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 8:00pm (CEST) Gene therapeutics have great potential to treat many severe diseases in an unprecedented, targeted manner. The biopharmace...
MAR 23, 2022 11:00 AM PDT
MAR 23, 2022 11:00 AM PDT
Date: March 23, 2021 Time: 11:00am (PDT), 2:00pm (EDT), 8:00pm (CEDT) In this presentation, Dr. Middleton will review the development and deployment of large-scale saliva-based COVID-19 test...
JUN 28, 2022 7:00 AM PDT
JUN 28, 2022 7:00 AM PDT
Date: June 28, 2022 Time: 3:00pm (BST), 4:00pm (CET), 9:00am (CST), 7am (PST) Light-sheet microscopy is an extremely versatile imaging technique with a vast range of implementations that are...
MAR 30, 2022 6:00 AM PDT
MAR 30, 2022 6:00 AM PDT
Targeted NGS has been instrumental in helping the healthcare community deliver on the promise of precision medicine. The Ion Torrent Genexus Integrated Sequencer has enabled targeted genomic...
OCT 11, 2022 8:00 AM PDT
C.E. CREDITS
OCT 11, 2022 8:00 AM PDT
Date: October 11, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CEST) Multiomic profiling of cell populations at single-cell resolution is revolutionizing scientists’ understanding o...
AUG 16, 2022 11:00 AM PDT
AUG 16, 2022 11:00 AM PDT
Date: August 16, 2022 Time: 11:00am (PDT), 2:00pm (EDT), 8:00pm (CEST) Understanding genomic variation in the context of cancer is paramount to identifying disease drivers and informing pers...
OCT 25, 2017 6:00 AM PDT

WEBINAR #3: Enabling neurological disease research via DNA fragment analysis on the new SeqStudio genetic analyzer

Sponsored by: Thermo Fisher Scientific


Show Resources
Loading Comments...
Show Resources