Baylor College of Medicine

Baylor researchers develop and validate clinical diagnostic RNA sequencing test

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...
Baylor College of Medicine

Medical Genetics Multiomics Laboratory

The Medical Genetics Multiomics Laboratory (MGML) is an academic clinical genetic testing laboratory from Baylor College of Medicine. The MGML supports the academic mission of Baylor College of ...
EurekAlert!

Genome Research publishes a Special Issue on Long-read DNA and RNA Sequencing Applications in Biology and Medicine

November 20, 2024 – Genome Research (https://genome.org) publishes a special issue highlighting advances in long-read sequencing applications in biology and medicine. In this first of two Special ...
ascopubs.org

Costs and Benefits of Whole-Exome, Whole-Transcriptome Sequencing in Patients With Advanced Non–Small Cell Lung Cancer

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...
ascopubs.org

Clinical Implementation of Expanded Solid Tumor Fusion Detection With Whole-Transcriptome Sequencing at an Academic Cancer Center

We validated a clinical bait-capture WTS assay using 78 solid tumor samples across diverse tissue types, including 59 with known fusions or oncogenic splice variants. Sensitivity was assessed against ...