Blueprint Genetics
EVENT
National Society of Genetic Counselors Annual Conference

Blueprint Genetics will be attending NSGC Virtual Annual Conference

The NSGC Annual Conference will be held in virtual format to showcase advancements across the breadth of the genetic counseling profession to provide education and build community. Attendees will gain knowledge of clinical and scientific best practices and insights into emerging research. The conference provides an opportunity to engage and network with colleagues and pursue professional development.

Join our Talk

Frequency and Characteristics of Copy Number Variants Identified by Whole Exome Sequencing
Presented by: Genetic Services Consultant Shea Rauch, MS, CGC

With advancements in next-generation sequencing (NGS) technologies, we are only beginning to understand the significance of high-resolution copy number variant (CNV) detection. We will discuss the prevalence of CNVs across a variety of medical subspecialties and present the results of our analysis of the proportion of diagnostic CNVs identified by our NGS pipeline.

Interested to learn more?

Watch our recent webinar to learn more about CNV detection here. 

Poster presentations

  • ‘Retrospective Analysis of >25,000 Rare Disease Patients Confirms Biallelic Variants in the NRAP Gene are a Significant Cause of Dilated Cardiomyopathy’
    Genetics Services Consultant Lauren Moissiy, MS, LGC
  • ‘A Method to Improve Genetic Diagnostic Yield Among Patients Suspected to Have Primary Immunodeficiency’
    Clinical Liaison Kim Gall, MSc, CGC

The schedule of our program will be announced here later.

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Last modified: 10.16.2020