Baylor Genetics to Showcase Clinical and Diagnostic Utility of Genome Sequencing and Multi-omics Across Rare Disease at the American Society of Human Genetics 2025 Annual Meeting

Company to share eight poster presentations highlighting advanced diagnostic tools to gain critical insights and shorten the diagnostic odyssey

HOUSTON, Oct. 08, 2025 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today announced it will showcase its leadership in genome sequencing and multi-omics to uncover critical information leading to rare disease diagnoses through eight poster presentations at the American Society of Human Genetics 2025 Annual Meeting, taking place October 14-18 in Boston, MA. Baylor Genetics will also be exhibiting at booth #556.

“Combining cutting-edge diagnostic tools, including our Whole Genome Sequencing with RNA sequencing, is proving critical in shortening the diagnostic odyssey,” said Christine Eng, MD, Chief Medical Officer and Chief Quality Officer at Baylor Genetics and a member of the ASHG Board of Directors. “These technologies help uncover information about complex conditions, giving healthcare providers actionable insights that bring them closer to answers for patients and families. We’re proud to highlight the clinical utility, diagnostic impact, and multi-omics capabilities of our services this week at the American Society of Human Genetics meeting.”

Poster presentations will be in Exhibit Halls A & B and include:

October 15, 2:30-4:30 p.m.

• SNP Array and Genome Sequencing Demonstrated Revertant Mosaicism via Postzygotic Rescue as the Main Mechanism of Mosaic Chromosomal Terminal Duplications
  • Presenting Author: Weimin Bi, PhD
• Damaging variants in HNRNPUL2 result in a novel HNRNP-Related Neurodevelopmental Disorder
  • Presenting Author: Maddie Gillentine, PhD

October 16, 2:30-4:30 p.m.

• Clinical Utility of Transcriptome RNA-Sequencing in Diagnosing Rare Genetic Disorders: Initial Experiences
  • Presenting Author: Mei Ling Chong, PhD
• Multi-omics Framework for Diagnosing NAXE Deficiency
  • Presenting Author: [Baylor College of Medicine]: Nikhita Gogate, MS
• Autosomal Dominant FAR1-Related Disorder Phenotypic Expansion
  • Presenting Author [Baylor College of Medicine]: Darwin Argueta, MS, CGC

October 17, 2:30-4:30 p.m.

• Diagnostic Utility of RNA Sequencing for Reclassification of Rare Disease Variants by Exome and Genome Sequencing
  • Presenting Author: Robert Rigobello, MS, CGC
• Elucidating the Diagnostic Yield and Allelic Characteristics of FGF14 Repeat Expansion for Adult Ataxia through Whole Genome Sequencing
  • Presenting Author: Haowei Du, MSc, PhD
• Reassessment of Rare TUBA4A Variants in Patients with Myopathy and Neurodevelopmental Features
  • Presenting Author: Keri Callegari, PhD

The Exhibit Hall and Poster Hall will be open October 15-17, from 9:30 am – 4:30 pm each day.

About Baylor Genetics  

Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. Baylor Genetics combines rapid and comprehensive precision diagnostics options with the support of genetic counselors to help clinicians avoid a lengthy diagnostic odyssey for their patients, guide medical management, and ensure no patient with a genetic disorder gets left behind. Baylor Genetics’ testing menu covers family planning, pregnancy, neonatal and pediatric testing, oncology, and many other specialized testing options. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states.

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