The Power of Whole Exome Sequencing to Unravel the Cause of Rare Disease

Explore how researchers at RWTH Aachen University utilized whole exome sequencing to advance rare disease studies in this 21-minute webinar. Discover the implementation of WES and the xGen Human mtDNA Research Panel. Learn about the discovery of a new multisystemic neurological disorder caused by DEGS1 mutations. Understand the use of spike-in probes for detecting known splice mutations. Examine how germline GPR161 alterations contribute to medulloblastoma predisposition. Gain insights into CNV and LOH detection using WES data. Investigate the association between biallelic LoF mutations in WDR11 and intellectual disability with short stature. Explore a hereditary myopathy caused by mutations in SVIL. Dr. Matthias Begemann and Dr. Florian Kraft present their team's findings using IDT's xGen Exome Panel, demonstrating the power of whole exome sequencing in unraveling the causes of rare diseases.

The power of whole exome sequencing to unravel the cause of rare disease
Implementation of WES
xGen Human mtDNA Research Panel
DEGS1 mutation cause a new mutisystemic neurological disorder
Using spike-in probes for detection of known splice mutations
Germline GPR161 alterations cause medulloblastoma predisposition
CNV and LOH detection with WES data
Biallelic LoF mutations in WDR11 are associated with ID and short stature
A hereditary myopathy caused by mutations in SVIL