Invitae Corporation (NYSE: NVTA), a genetic information company, today announced it will be presenting a dozen posters and presentations at the 2016 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting in Tampa, Florida.
The titles and schedule of the Invitae posters and presentations are as follows:
Short Course: Tuesday, March 8, 12:50 p.m. Eastern
- How to use OMIM: Let me count the ways | Presented by Dr. Robert Nussbaum, Invitae
Platform Talks & Poster Presentations: Thursday, March 10, 9:15 a.m. – 12:00 p.m. Eastern
- Platform Talk: Don’t believe everything you hear: Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories | Presented by Steve Lincoln, Invitae
- Platform Talk: A change in perspective: BRCA1 and BRCA2 pathogenic variants in patients with GI cancers | Presented by Judith Hiemenga, Spectrum
- Poster #95: Detection of novel Alu insertions by next-generation sequencing of hereditary cancer genes | Presented by Michael Kennemer, Invitae
- Poster #103: Expanding phenotypes of cancer predisposition genes: CDKN2A | Presented by Scott Michalski, Invitae
- Poster #443: Rare disease diagnosis obstacles: Patient perspectives and physician findings | Presented by Stephanie Gandomi, Invitae
- Poster #489: Challenges of content expansion with panel testing: Incorporating informatics into the clinical report | Presented by Jackie Tahiliani, Invitae
- Poster #591: Detection of mosaic ring X chromosome by next-generation sequencing: A case report of mosaic Turner syndrome presenting with a ciliopathy-like phenotype | Presented by Amy Fuller, Invitae
Poster Presentations: Friday, March 11, 10:30 a.m. – 12:00 p.m. Eastern
- Poster #196: Empowering variant interpretation with an automated classifier running the ACMG guidelines for interpretation of sequence variants | Presented by Xing (Dandan) Xu, SolveBio
- Poster #244: A systematic approach to accurately determine disorder-specific allele frequency thresholds using the ExAC database | Presented by Yuya Kobayashi, Invitae
- Poster #354: To include or not to include: RASopathy genes in cardiomyopathy genetic testing | Presented by Emily Decker, Invitae
- Poster #502: To confirm or not to confirm, that is the question: A rigorous approach to evaluating the importance of Sanger confirmation of NGS findings | Presented by Steve Lincoln
For more detailed information, please visit http://www.acmgmeeting.net/acmg2016/Public/enter.aspx.
Invitae Corporation's (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics and other rare disease areas. For more information, visit our website at ir.invitae.com.
Source: Invitae Corporation