Development of targeted DNA sequencing panel for brain tumors

A prompt and reliable molecular diagnosis for brain tumors has become crucial in precision medicine. While Comprehensive Genomic Profiling (CGP) has become feasible, there remains room for enhancement in brain tumor diagnosis due to the partial lack of essential genes and limitations in broad copy number analysis. In addition, the long turnaround time of commercially available CGPs poses an additional obstacle to the timely implementation of results in clinics. To address these challenges, we developed a CGP encompassing 113 genes, genome-wide copy number changes, and MGMT promoter methylation.

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000979	Targeted sequencing dataset used for the paper entitled "Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas". The cohort includes 53 cases of targeted DNA squencing, 15 of them have matched control sequences. The capture panel was made by Agilent SureSelect and the sequence was performed using DNBSEQ or Illumina sequencer.	DNBSEQ-G400	68

Publications	Citations
Development of a rapid and comprehensive genomic profiling test supporting diagnosis and research for gliomas. Nakashima T, Yamamoto R, Ohno M, Sugino H, Takahashi M, Funakoshi Y, Nambu S, Uneda A, Yanagisawa S, Uzuka T, Arakawa Y, Hanaya R, Ishida J, Yoshimoto K, Saito R, Narita Y, Suzuki H. Brain Tumor Pathol 41: 2024 50-60	0