Holoprosencephaly

Researchers present abstracts and poster sessions showcasing research and clinical solutions Joint session planned with Illumina HOUSTON, March 04, 2024 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will showcase its latest advancements and research discoveries at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting on March 12-16 in Toronto, Canada. The presentations shed light on cutting-edge developments in genetic analysis, diagnostic interpretation, and clinical results, underscoring Baylor Genetics’ mission to translate scientific innovation into accessible clinical solutions that improve patient outcomes and advance precision diagnostics. Exhibit Theater Presentation In a joint Exhibit Theatre Session, Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics, will speak about “Preparing for a Genome World | AI and Informatics Automation at the Core.” The session will take place in Exhibit Theater 2, presented by Illumina, Inc., on Thursday, March 14, from 11:55 a.m. to 12:25 p.m. (EST). Panel Presentation In a panel presentation titled, “Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing,” Pengfei Liu, Ph.D., associate clinical director of research at Baylor Genetics, will participate on March 13 from 4:00 – 5:30 p.m. (EST) in Meeting Room 701. He will present on, “The Utility of Transcriptome RNA-Seq Analysis in Disease Diagnostics and Variant Interpretation,” from 4:30 – 4:45 p.m. (EST) and participate in the panel discussion to follow at 5:15 p.m. (EST). Poster Presentations March 14, 10:30 a.m. – 12:00 p.m. (EST) Detection of Single-Gene Copy Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis Primary Author: Dr. Matthew Hoi Kin Chau Novel Presentation of Dextrocardia in TGIF1 Holoprosencephaly Primary Author: Dr. Casey Thornton Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly Primary Author: Dr. Nichole Owen More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome Primary Author: Dr. Liesbeth Vossaert March 15, 10:30 a.m. - 12:00 p.m. (EST) Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledge Base to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting Primary Author: Dr. Xi Luo Phenotype Expansion or Multiple Diagnosis: Experience from Additional Findings in Patients with Common Aneuploidies Primary Author: Dr. Xiaonan Zhao Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death Primary Author: Dr. Eric Kao Positive Findings in Clinical Mitochondrial Genome Testing by NGS Primary Author: Dr. Yue Wang PMP22 Single Exon Deletion in a Proband with Hematologic Malignancy and Family History of Charcot-Marie-Tooth Disease Primary Author: Dr. Katharina Schulze "The insights and research findings we share at ACMG 2024 spotlight the power of ongoing collaboration with leading industry partners, children’s hospitals, healthcare providers, academic and research organizations," said Kengo Takishima, President and Chief Executive Officer of Baylor Genetics. "These presentations reflect our ongoing commitment to advancing the field of genetics and empowering patients, providers, and partners with insights and innovations to transform healthcare and improve lives." Baylor Genetics invites attendees to visit its exhibit at Booth #1200, as well as attend presentations and poster session to learn more about research, offerings and advancements in whole genome and exome sequencing, reproductive health, critical care, oncology, disease-specific panels and complementary solutions. The company will host a networking breakfast on Thursday, March 14. Customers and partners interested in attending the breakfast can request an invitation and register here or inquire onsite at the Baylor Genetics booth. Learn more about ACMG’s Annual Clinical Genetics Meeting through the conference website and visit the Baylor Genetics’ website to explore the company’s genetic testing capabilities. About Baylor Genetics A pioneer of precision diagnostics for over 45 years, 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. A joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, which has the #1 NIH-funded Department of Molecular and Human Genetics, Baylor Genetics couples the fastest and most comprehensive precision diagnostics options with the support of genetic counselors to help clinicians and their patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. Its test menu spans from family planning, pregnancy, neonatal and pediatric testing, oncology, and specialized test options. Baylor Genetics is located in Houston’s Texas Medical Center and serves clients in 50 states and 16 countries.