Customer Videos - NGS Constitutional Disease Research

Rare Mendelian Disorders

Dr. Pinar Bayrak-Toydemir
Utility of an Automated SureSelect NGS Panel for Understanding Marfan and Marfan-like Syndromes Featuring Aortopathy

Use of targeted gene panels or undrstanding Marfan and Marfan-like Syndromes. -Pinar Bayrak-Toydemir, M.D., Ph.D. University of Utah, ARUP Laboratories, UT.
Dr. Hoischen
Disease gene identification by exome sequencing

Highlights the use of SureSelect Human All Exon kits for disease gene identification, with a focus on de novo mutations and clinical research applications - Alexander Hoischen Ph.D., Radboud University Nijmegen Medical Centre.
Dr. van IJcken
The Latest Research Using SureSelect Human All Exon V4

Presentation from AGBT 2012 outlining performance of the new SureSelect Human All Exon V4 kits and automation. Preliminary results from the Erasmus Rucphen Family study investigating complex traits is presented - Wilfred van IJcken, Ph.D., Erasmus, MC.
Dr. Cuppen
Highly efficient enrichment and base coverage of small genomic targets using HaloPlex technology

Using a custom HaloPlex design, Dr. Cuppen details his research studying X-linked diseases and cancer - Edwin Cuppen, Ph.D., UMC Utrecht.




Complex Disorders

Dr.Julie R.Jones
Integrating NGS and microarray Data for a more Comprehensive Analysis

Use of targeted NGS panel in conjunction with a custom microarray in order to provide a more comprehensive analysis for autism spectrum disorder – Julie R. Jones, PhD, FACMG, Greenwood Genetic Center, SC.
Dr. Girard
A brief (and incomplete) story of de novo mutations in Schizophrenia

Simon L Girard; Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montréal Research Center, Montréal, Québec, Canada.

 

For Research Use Only. Not for use in diagnostic procedures.