Join us at #ASHG16

Together we can improve healthcare for billions of people

Scientific presence

Invitae is working toward one simple goal: offering the highest quality genetic testing in the medical community while lowering the cost.
Wednesday, October 19, 2:00-4:00 pm
  • Accurate detection of copy-number changes in the highly conserved regions of PMS2 using NGS | Poster #775W | Presented by Vince Ramey, Invitae
  • Variant classifications are highly concordant in ClinVar, but with variability in genes from different disease areas | Poster #976W | Presented by Shan Yang, Invitae
  • PseudoSlayer: Clinical-grade variant identification within segmental duplications using NGS data | Poster #1006W | Presented by Dan Kvitek, Invitae
  • Creating a medically actionable genetic screening panel for healthy individuals | Poster #3031W | Presented by Ed Esplin, Invitae
Thursday, October 20, 2:00-4:00 pm
  • What do public databases really tell us about classification of variants in BRCA1 and BRCA2? | Poster #773T | Presented by Robert Nussbaum, Invitae
  • Glycine missense variants in the COL3A1 triple helix domain: how to assess functional domain data during clinical variant interpretation | Poster #791T | Presented by Daniel Beltran, Invitae
  • Mammalian species conservation data and the implication for clinical variant classification | Poster #2858T | Presented by Paige Taylor, Invitae
  • Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome | Poster #2681T | Presented by Sock Hoai Chan, National Cancer Center Singapore
Friday, October 21, 2:00-4:00 pm
  • Evaluating the strength of evidence for gene/condition relationships: impact on multi-gene panel testing design | Poster #834F | Presented by Chris Tan, Invitae
  • Lions and tigers and bears, oh my! Technically challenging variants are prevalent and require new approaches to NGS test development and validation | Poster #936F | Presented by Steve Lincoln, Invitae
  • SMRTer confirmation: scalable clinical read-through variant confirmation using the Pacific Biosciences SMRT® Sequencing Platform | Poster #996F | Presented by Sarah McCalmon, Invitae
  • Phenotypes of distinction: When and how to integrate unique phenotypic information into variant interpretation | Poster #1032F | Presented by Britt Johnson, Invitae
  • Molecular follow up of a newborn screening (NBS) positive case of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified two ACADM variants – are they clinically pathogenic? | Poster #2286F | Presented by Yuan-Yuan Ho, Invitae
  • Attitudes regarding personal genome sequencing among healthy early adopters: Findings from the PeopleSeq Consortium | Poster #3108F | Presented by Ed Esplin, Invitae

What's going on at our booth?

We believe today's gold standard includes both high quality testing and a dedication to improving medicine by sharing data.

Stop by Booth 610 to learn more!

About Invitae

Invitae is committed to delivering comprehensive and high quality, affordable testing—improving patients’ lives while also saving the healthcare system valuable dollars.

Our goal is to ensure you have the tools you need to give your patients answers, reliably and quickly. Join us in our mission to improve healthcare for everyone.