Comprehensive interrogation of the genetic determinants of female and male infertility: a new NGS research application enabled by improvements in target enrichment technology

17 MAY 2018 17 MAY 2018

Unlike traditional PCR-based assays, next-generation sequencing (NGS) permits the simultaneous interrogation of multiple disease-causing variants from different variant classes across a multitude of genes. High performance, streamlined target enrichment technologies and workflows are essential to support the routine use of expanded, NGS-based assays in translational and clinical research.

In this Roche-sponsored webinar, Dr. Oscar Puig will discuss the development of a NGS research panel for the detection of genetic variants with direct impact on female and male infertility. The research panel, designed for the research assessment of sex chromosome aneuploidies, Y chromosome microdeletions and variants in 87 genes (including promoters, 5’- and 3’-untranslated regions, exons and selected introns), is based on optimized SeqCap EZ Prime Choice Probes. Analytical validation was performed using the HyperCap Workflow. 

Dr. Jennifer Pavlica will discuss the HyperCap Workflow in more detail and she will also outline how the process was streamlined to reduce user intervention and enable end-to-end automation, and highlight recommended QC points. The inherent flexibility of this complete, single-vendor target enrichment solution will be demonstrated with key performance data from different inputs and sample types, including FFPE DNA.

 

Comprehensive interrogation of the genetic determinants of female and male infertility: a new NGS research application enabled by improvements in target enrichment technology
Date: May 17, 2018
Time: 1:00 PM EST
Register Now

 

Our Speakers


Oscar Puig
Chief Scienctific Officer
Phosphorus

Oscar Puig is the Chief Scientific Officer at Phosphorus, a genetic testing company. Prior to that, he was a Biomarker Leader in Oncology at the Roche Innovation Center in New York. He earned his Ph.D. at the University of Valencia, Spain, and carried out postdoctoral research at the European Molecular Biology Laboratory, in Heidelberg, Germany, and in the lab of Bob Tjian, at UC Berkeley, CA. Before joining Roche in 2012, he worked at Merck and at the University of Helsinki, where he is a docent. Dr Puig has 46 publications in peer-reviewed journals.

 


Jennifer Pavlica
Applications Team Manager
Roche Diagnostics

Jennifer Pavlica joined Kapa Biosystems, now Roche, in 2014 and is the Applications Team Manager for the Roche Diagnostics Corporation’s Sequencing and Life Science division. Previously in research and development at Life Technologies, she contributed to workflow optimization and automation for the SOLiD and Ion Torrent platforms. She obtained her Bachelor’s degree in Chemical Engineering from the University of Massachusetts Amherst, and her Master’s degree in Chemical and Biomolecular Engineering from the University of Pennsylvania.

Research Use Only. Not for use in diagnostic procedures.

HYPERCAP and SEQCAP are trademarks of Roche. All other product names and trademarks are the property of their respective owners.