GeneDx to Present Data at the 2024 American College of Medical Genetics (ACMG) Annual Meeting Demonstrating Clinical Superiority of its Exome, Paving the Way for the Future of Genomics - Seite 2

"We are motivated to continue to push the boundaries of genomics to transform the future of healthcare," said Paul Kruszka, Chief Medical Officer at GeneDx. "Through our relentless commitment, we are revolutionizing genetic testing and diagnosis, and empowering healthcare providers to deliver personalized care to even more patients."

Full 2024 ACMG Conference Participation:

Industry Platform Presentation: Thursday, 3/14/2024, 11:30 am - 12:45 pm

• Ensemble Prediction of the Impact of Missense Variants Substantially Decreases VUS Rate in Genetic Testing (R Kueffner, MJ Guillen Sacoto, G Stolovitzky)
  

Rapid Fire Poster Presentation: Thursday, March 14 from 12:00pm – 12:30pm

• (P130) Phenotypic Spectrum of Individuals with SLC16A2 Variants: Allan-Herndon-Dudley Syndrome (K McWalter, HZ Elloumi)
  

Poster Sessions:

Thursday, March 14 from 10:30am – 12:00pm

• (P149) Exome Sequencing vs Chromosomal Microarray for Copy Number Variant Detection (K McWalter, J Juusola, P Kruszka, A Lindy, G Douglas)
• (P293) Long Read Sequencing Analysis of 120 Samples with Known and Challenging-to-Detect Clinical Variants (J Devaney, J Noya, A Berlyoung, A Johnson, J Spangler, R Brandon, KS Hruska, L Lochovsky, P Kruszka, G Stolovitzky, S Newman)
• (P635) Long Read Sequencing for the Analysis of Repeat Expansions Disorders (A Berlyoung, J Noya, A Johnson, J Spangler, R Brandon, KS Hruska, L Lochovsky, J Chin, G Stolovitzky, S Newman, J Devaney)
  

Friday, March 15 from 10:30am – 12:00pm

• (P130) Phenotypic Spectrum of Individuals with SLC16A2 Variants: Allan-Herndon-Dudley Syndrome (K McWalter, HZ Elloumi)
• (P180) Expanding the Phenotype Spectrum of Mendelian Diseases with a Genotype-First Approach (MJ Guillen Sacoto, Houda Elloumi, S McGee, V Ustach, T Brandt, P Kruszka)
• (P640) Amplification and Long-Read Sequencing of the Mitochondrial Genome (J Spangler, A Johnson, J Noya, S Yusuff, R Brandon, KS Hruska, L Lochovsky, J Chin, G Stolovitzky, S Newman, J Devaney)
  

Industry Symposium Session: Thursday, March 14 from 11:30am – 12:45pm

• Equitable Access to Exomes and Genomes. Ordered by Whom?
  

ACMG 2024 meeting attendees can visit GeneDx at booth #701

About GeneDx
At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. It all starts with a single test. For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, X, and Instagram.