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This study performed exome sequencing on a proband with Brugada Syndrome, as well as high-density SNP array data from the proband, affected family members, and unaffected family members. The principal findings of this study were the identification of GPD1L-A280V as the only plausible variant present in a linkage region on chromosome 3, which co-segregated with the Brugada Syndrome phenotype in this family. Exome sequencing data of the proband, as well as SNP array data from the family, are available.<br>
<p>We have created a resource of transcriptomic (RNAseq), genomic (whole-exome seq), and lipidomic (untargeted shotgun) profiling data from over 175 molecularly diverse glioma tumors and derivative models in orthotopic mouse xenografts and gliomasphere cultures from over 110 unique patient tumor lines. Provided in this dataset are matched bulk RNA and whole-exome paired-end sequencing data from resected gliomas and derived model systems performed on Illumina HiSeq and NovaSeq sequencing instruments. This comprehensive dataset powers multiple studies aiming to derive molecular signatures of intertumoral heterogeneity and perturbation responses in glioma. </p><p>Through integrative multi-omic analyses in Minami, et al., 2023, <a href="https://pubmed.ncbi.nlm.nih.gov/37236196/" target="_blank">PMID: 37236196</a>, we identified that <a href="https://www.ncbi.nlm.nih.gov/gene/1029" target="_blank">CDKN2A</a> deletion remodels the GBM lipidome and consequently primes CDKN2A-deleted tumors for ferroptosis. </p><p>Lipidomics data related to this study are publicly available <a href="https://data.mendeley.com/datasets/kjtdgk3f25/4" target="_blank">here</a>. </p><p>In another study, we used a combination of molecular profiling and functional profiling of apoptotic potential to stratify patients into groups with differential vulnerability to the current standard-of-care in gliomas, and in combination with drugs targeting intrinsic apoptosis, largely informed but not limited to <a href="https://www.ncbi.nlm.nih.gov/gene/7157" target="_blank">TP53</a> mutation status.</p>