SAN FRANCISCO--(BUSINESS WIRE)--
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.
About Invitae
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.

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Source: Invitae Corporation