Personalis Sequencing and Interpretation Platform for Disease Diagnostics and Research
Thursday, February 5th, 2015
Start Time: 
12:00 PM
End Time: 
1:00 PM
Location / Facility: 
G01 Biotech Building

Abstract: Founded by leaders in sequencing, genomics, and clinical medicine, Personalis provides high accuracy exome and whole genome sequencing and analysis for discovery research, inherited disease diagnostics and cancer studies.  This seminar will highlight the Personalis ACE Platform.  This sequencing-to-analysis platform provides an enhanced exome that has focused coverage of the medically actionable genome for both clinical and research applications.  The Personalis platform achieves finishing of most biomedically relevant genes and supplements difficult regions in the genomic architecture, including gaps in common Mendelian, cancer and pharmacogenomics genes.  The resulting enhanced exome also targets key clinically relevant intergenic and intronic variants not covered by other approaches.  ACE provides a state-of-the-art pipeline for alignment and variant calling with comprehensive annotation for analyses.  The Personalis ACE Clinical Exome is the first test to combine enhanced exome sequencing with genome scale structural variant detection for diagnosis of genetic syndromes and diagnostic odysseys.  With accurate gene coverage and a comprehensive collection of curated variant and phenotype associations, the Personalis platform enhances diagnostics for clinical care and increases discovery in a variety of research applications.

Speaker: Erin Newburn, Ph.D.
Field Applications Scientist
Personalis, Inc.

Pizza and refreshments will be provided.

This seminar is part of the Cornell University Life Sciences Advanced Technology Seminar series
sponsored by the Cornell University Biotechnology Resource Center (BRC)

For more information about this seminar series, please contact George Grills at

Biotechnology Development Facility
Bioinformatics Facility
Biotechnology Resource Center (BRC)
Genomics Facility