Personalis to Showcase New Products for Cancer Research and Inherited Disease Testing at ASHG Annual Meeting

Presentations, Posters and Genomics Workshop will Highlight Personalis’ New Solutions and Services

ASHG 2014

MENLO PARK, Calif.--()--Personalis, Inc., a leading genomics-based clinical diagnostic laboratory, announced it will be attending the 2014 American Society of Human Genetics Annual Meeting where it will introduce new products for cancer research and inherited disease testing. The meeting takes place October 18-22 at the San Diego Convention Center.

“Personalis is leading the way in genomic analysis and interpretation in both the research and clinical settings, and we are excited to introduce new services for inherited disease diagnosis and tumor genomic profiling. We are also pleased to support our customers who will be demonstrating their success using our services for genome and exome sequencing and analysis,” said John West, Chief Executive Officer of Personalis.

Those attending the meeting can learn more about the Personalis solutions at the following presentations:

Personalis Genomics Workshop
Sunday, October 19th
12:00 PM - 1:30 PM

Diagnostics and Discovery in Cardiovascular Genomics
Euan Ashley, MRCP, D.Phil (Stanford University)

Analysis of Congenital Disorders Through Trio-based Whole Genome Sequencing
Benjamin D. Solomon, M.D. (Inova Translational Medicine Institute)

Advanced Solutions for Complete Profiling of Cancer Samples
Elena Helman, Ph.D. (Personalis)

Personalis Exhibitor Theater
Monday, October 20th from 1:45 - 2:30 PM

Why Accuracy Matters: Improving Discovery and Diagnostics for Whole Genomes and Exomes
Deanna Church, Ph.D. (Personalis)

Platform Presentations
Sunday, October 19th

2:45 PM: The impact of GRCh38 on clinical sequencing (Session #16)

3:00 PM: Optimized exome sequencing for discovery research: Improved metrics and methods to enhance variant discovery across the biomedical footprint of the genome (Session #16)

3:15 PM: An augmented exome providing accurate structural variant detection (Session #19)

Poster Presentations:
Sunday, October 19th
5:00 PM - 6:00 PM

Implementing an augmented clinical exome and reference improvements to enhance diagnostic yield and discovery (2432S)

Monday, October 20th
3:00 - 4:00 PM

Accurate detection of low-representation alleles in tumor DNA through augmented exome and transcriptome sequencing (1486M)

Integrated analysis of transcriptome and exome in cancer samples improves interpretation and reveals additional therapeutic insights (3348M)

Tuesday, October 21st
2:00 PM - 3:00 PM

Using an augmented exome to improve diagnostic yield: case studies in retinal disorders (2943T)

3:00 PM - 4:00 PM

Method for classifying candidate structural variants into true positives and false positives (582T)

Additionally, attendees can visit Personalis representatives at booth #639 in the exhibit hall, where there will be a series of informative “meet the expert” presentations on various topics. For more information or to register for the workshop visit:

About Personalis, Inc.

Personalis, Inc. provides researchers and clinicians advanced genomics sequencing and interpretation services for inherited genetic disease and cancer. Our ACE (Accuracy and Content Enhanced) Technology supplements a standard exome or genome, substantially increasing its medically-relevant coverage and accuracy. Personalis builds on this enhanced sequencing foundation with innovative algorithms and proprietary databases for alignment, variant calling, annotation, and analysis. Through this comprehensive approach, we provide genomic data and interpretation of the highest accuracy. Personalis’ ACE Clinical Exome™ Test has several major features that are not addressed by standard exome sequencing platforms: a high level of gene finishing, structural variant detection, and inclusion of non-exonic biomedical content. The ACE Clinical Exome Test has been specifically designed to enhance diagnostic yield for clinical care.

For more information about Personalis, Inc., please visit


Maurissa Messier, 760-659-6700

Release Summary

Personalis, Inc., announced it will be attending the 2014 ASHG Annual Meeting where it will introduce new products for cancer research and inherited disease testing.


Maurissa Messier, 760-659-6700