ACMG 2019

The ACMG Annual Meeting offers an opportunity for the medical genetics community to come together and learn about both research and clinical updates that inform their daily practice.

Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at booth #805 to hear about the latest developments at Blueprint Genetics. Join the discussion #ACMGMtg19 #GeneticKnowledge and read more about the meeting here.


Download program in pdf

Our scheduled talks

Wednesday, 1:30 pm – 3:30 pm, Room 6E

Scientific concurrent session: “The Eyes Have it: Genetics of Ophthalmological Disorders”

2:30 pm –3:00 pm

“Utilization of Next Generation Sequencing in the Molecular Diagnosis of Inherited Retina Disorders” presented by Jennifer Schleit, PhD, FACMG, Senior Geneticist at Blueprint Genetics


Friday, 12:30 pm – 1:00 pm, Exhibit Theater 2

“Improved Diagnostic Yield in Rare Hereditary Disorders: Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions”

Kim Gall, MSc, CGC, Clinical Liaison, Blueprint Genetics

NEW: In-booth Q&A sessions (20 min)

Thursday, 3:40 pm – 4:00 pm, Booth: #805

WHAT IF IT’S A VUS? Discussion on why variants are classified as a VUS and what can be done to advance reclassification.

Led by Jennifer Schleit, PhD, FACMG, Senior Geneticist at Blueprint Genetics


Friday, 10:10 am – 10:30 am, Booth: #805

IN THE HEART OF GENETICS – latest updates in cardiovascular genetic testing.

Led by Juha Koskenvuo, MD, PhD, Chief Medical Officer and Laboratory Director.

Our poster presentations

Thursday, April 4, 10:00 am – 11:30 am

  • “Characterization of Copy Number Variants (CNVs) Identified by Genetic Testing of Inherited Retinal Disorders”
    Poster number: 747
  • “Whole Exome Sequencing-Based Panel Assay with Boosted Clinical Content Generates a High Diagnostic Yield in Patients with Inherited Eye Diseases”
    Poster number: 373
  • “Genetic Characteristics and Prevalence of RPE65-associated Retinal Disease”
    Poster number: 371


Friday, April 5, 10:30 am – 12:00 pm

  • “Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD“
    Poster number: 396
  • “Genetic Diagnostics of Spinal Muscular Atrophy: SMN1 and SMN2 Copy Number Analysis Using Next-Generation Sequencing and rhPCR”
    Poster number: 686
  • “Genetic Testing in an Unselected HCM Cohort: A Descriptive Overview”
    Poster number: 332
  • RPGR ORF15 Sequencing Improves Diagnostic Yield in Patients with Inherited Retinal Dystrophies”
    Poster number: 372

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