Posted inClinical Updates Hematology-Oncology
Enhancing Diagnosis in Inherited Bone Marrow Failure Syndromes with Upfront Whole Genome and Transcriptome Sequencing
Upfront whole genome and transcriptome sequencing (WGTS) improves diagnostic yield in inherited bone marrow failure syndromes (IBMFS) by identifying diverse pathogenic variants and novel mechanisms, guiding personalized patient management and expanding gene-disease knowledge.