17 research outputs found

    The genomic and transcriptional landscape of primary central nervous system lymphoma

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    Primary lymphomas of the central nervous system (PCNSL) are mainly diffuse large B-cell lymphomas (DLBCLs) confined to the central nervous system (CNS). Molecular drivers of PCNSL have not been fully elucidated. Here, we profile and compare the whole-genome and transcriptome landscape of 51 CNS lymphomas (CNSL) to 39 follicular lymphoma and 36 DLBCL cases outside the CNS. We find recurrent mutations in JAK-STAT, NFkB, and B-cell receptor signaling pathways, including hallmark mutations in MYD88 L265P (67%) and CD79B (63%), and CDKN2A deletions (83%). PCNSLs exhibit significantly more focal deletions of HLA-D (6p21) locus as a potential mechanism of immune evasion. Mutational signatures correlating with DNA replication and mitosis are significantly enriched in PCNSL. TERT gene expression is significantly higher in PCNSL compared to activated B-cell (ABC)-DLBCL. Transcriptome analysis clearly distinguishes PCNSL and systemic DLBCL into distinct molecular subtypes. Epstein-Barr virus (EBV)+ CNSL cases lack recurrent mutational hotspots apart from IG and HLA-DRB loci. We show that PCNSL can be clearly distinguished from DLBCL, having distinct expression profiles, IG expression and translocation patterns, as well as specific combinations of genetic alterations

    The Open Anchoring Quest Dataset: Anchored Estimates from 96 Studies on Anchoring Effects

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    People’s estimates are biased toward previously considered numbers (anchoring). We have aggregated all available data from anchoring studies that included at least two anchors into one large dataset. Data were standardized to comprise one estimate per row, coded according to a wide range of variables, and are available for download and analyses online (https://metaanalyses.shinyapps.io/OpAQ/). Because the dataset includes both original and meta-data it allows for fine-grained analyses (e.g., correlations of estimates for different tasks) but also for meta-analyses (e.g., effect sizes for anchoring effects)

    Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa

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