Advancing Cerebral Palsy Diagnosis Through Genomic Sequencing
Cerebral palsy (CP) is one of the most common motor conditions in children and is an umbrella term for a group of conditions affecting movement and posture that can be…
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Unlocking the Mysteries of Rare Disease: Key Takeaways from Four Studies on Rare Disease at the 2025 ACMG Annual Meeting
The 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting spotlighted some of the most innovative research in rare disease diagnostics and mitochondrial medicine. Among the contributions from…
Beyond Diagnosis: How Results from WGS and WES Inform Treatment and Guide Patient Management
In recent years, Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) have emerged as groundbreaking tools in the field of genomics, offering providers and patients new insights into the…
Empowering Diagnosis with Whole Exome Sequencing
WHAT IS WHOLE EXOME SEQUENCING? Navigating the complexities of genetic and rare conditions from diagnosis to treatment can be challenging, especially when answers feel out of reach. Determining the genetic…
Bridging the Genomic Divide: The Impact of Project GIVE on Underserved Communities in Texas
Healthcare inequality and access to genetic testing is a pervasive challenge across the United States, often most acute in underserved regions with high poverty rates, scarce medical resources, and diverse…
Why Should I Order Whole Genome Sequencing for My Patients?
Whole Genome Sequencing (WGS) is at the forefront of comprehensive genetic testing, designed to analyze the entire genome to find an underlying genetic cause (etiology) relating to a patient’s medical…
Unlocking the Potential of Rapid Whole Genome Sequencing as a First-Tier Test for Genetic Diagnostics
A Powerful First-Tier Diagnostic Tool Every day counts in the neonatal and pediatric intensive care unit (NICU and PICU), where healthcare providers work tirelessly to both manage symptoms and identify…
Bridging the Gap: Addressing Inequalities in Access to Genetic Testing
Bridging the Gap: Addressing Inequalities in Access to Genetic Testing In the United States (U.S.), the landscape of healthcare is complex, blending innovative technology with a web of economic, social,…
What Parents Should Know about Genetic Testing for Rare Disease in Intensive Care Settings
What Parents Should Know about Genetic Testing for Rare Disease in Intensive Care Settings INTRODUCTION Genetic testing can offer hope for many families that are navigating the complex reality of…
Unlocking Comprehensive Genetic Insights with RNAseq for WGS and WES
Unlocking Comprehensive Genetic Insights with RNAseq for WGS and WES Whole genome sequencing (WGS) and whole exome sequencing (WES) are comprehensive genetic tests that help improve patient care by enabling…
Q&A: Improving Access to Genomic Testing at Baylor Genetics
Reposted from an article in GenomeWeb on May 6, 2024 It takes an average of eight years for babies and children with genetic and rare conditions to receive a diagnosis. For patients…
Using AI to Improve Diagnosis of Rare Genetic Disorders
HOUSTON – (April 25, 2024) – Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process…