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!
Poster # P074
Friday, March 15, 2024 10:30 - 12:00pm Abstract Poster
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 Abstract Poster
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 Abstract Poster
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 Abstract Poster
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 Abstract Poster
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 Abstract Poster
Heather Zimmermann, Jessica Grzybowski, Meghan C. Towne, Brooklynn Gasser, Melissa Samons, Carolyn Horton. Unlocking the code: When SpliceAI falls short in variant assessment.
Session # tbd
Tuesday, March 12, 2024 4:00 - 6:00pm
Steven Harrison, et al.. ACMG/AMP/CAP/ClinGen Standards for Sequence and Copy Number Variant Classification
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 Abstract
Shoji Ichikawa, Katie Yergert, Brooklynn Gasser, Meghan C. Towne, Dana Burow. Utility of targeted RNA analysis in neurological disorders