ACMG 2024 Visit Us At Booth #1101

American College of Medical Genetics and Genomics annual meeting


Ambry Genetics is a pround sponsor of the 2024 ACMG Annual Meeting. We invite you to visit us at booth 1101 to learn more about Ambry's Classifi program and Patient for Life 

Check out our activites at ACMG:

Exhibit theater presentation:

Thursday, March 14, 12:30pm-1:00pm

Exhibit Theater 2

“Testing with Intention: Leveraging a standardized gene-disease validity framework in the face of evolving evidence.” 

-presented by Meghan Towne, MS, GCG, LGC and Devon Thrush, MS, GCG

 

Platform Presentation #: O34  “Utility of targeted RNA analysis in neurological disorders” 

Presented by: Shoji Ichikawa

Thursday, March 14, 11:30 am- 11:45 am ET

We'll also be presenting six posters during the poster session! 

Research

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Scientific Posters

Poster # P074

Friday, March 15, 2024 10:30 - 12:00pm

Sami Belhadj, Felicia Hernandez, Terra Brannan, Colin Young, Jesus Ramirez Castano, Cassidy Carraway, Jessica Grzybowski, Carrie Horton, Marcy E. Richardson, Rachid Karam. Characterization of complex hereditary cancer associated germline variants with long read sequencing.

Poster # P768

Friday, March 15, 2024 10:30 - 12:00pm

Brooklynn Gasser, Meghan C. Towne, Adelina Batcheva, Melissa Holman, Christina Alamillo. Clinical utility of prenatal exome sequencing: Insights from a 10-year cohort.

Poster # P690

Friday, March 15, 2024 10:30 - 12:00pm

Matthew J. Varga, Nitsan Rotenberg, Lobna Ramadane-Morchadi, Adam Chamberlin, Marcy E. Richardson, Cristina Fortuno, Miguel de la Hoya, Amanda B. Spurdle. Integration of protein stability and structural context scores improves bioinformatics predictions for BRCA1 and TP53 gene variants.

Poster # P618

Friday, March 15, 2024 10:30 - 12:00pm

Meghan C. Towne, Melissa Holman, Andrew Giles, Brooklynn Gasser, Ginger J. Tsai, Brian Schoenfeld. Optimizing diagnostic potential: Impact of familial sample configurations on exome sequencing.

Poster # P796

Friday, March 15, 2024 10:30 - 12:00pm

Julia A. Coltri, Samantha L. Wiegand, Ginger J. Tsai, Bethany Buckley. Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental isodisomy: A case report.

Poster # P644

Friday, March 15, 2024 10:30 - 12:00pm

Heather Zimmermann, Jessica Grzybowski, Meghan C. Towne, Brooklynn Gasser, Melissa Samons, Carolyn Horton. Unlocking the code: When SpliceAI falls short in variant assessment.

Oral Presentations

Session # Exhibit Theater 2

Thursday, March 14, 2024 12:30 - 1:00pm

Meghan C. Towne, Devon Thrush. Testing with intention: Leveraging a standardized gene-disease validity framework in the face of evolving evidence

Session # O34

Thursday, March 14, 2024 11:30 - 11:45am

Shoji Ichikawa, Katie Yergert, Brooklynn Gasser, Meghan C. Towne, Dana Burow. Utility of targeted RNA analysis in neurological disorders

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