21 Result(s)
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Sebastian M. Waszak
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Open AccessClinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations
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Open AccessPan-cancer atlas of somatic core and linker histone mutations
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes in cancer. However, the prevalence and the clinical and biological implications of his...
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Open AccessMutation-Attention (MuAt): deep representation learning of somatic mutations for tumour ty** and subty**
Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutat...
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Open AccessAuthor Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
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Open AccessPublisher Correction: Butler enables rapid cloud-based analysis of thousands of human genomes
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessAuthor Correction: Butler enables rapid cloud-based analysis of thousands of human genomes
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Open AccessAuthor Correction: Genomic basis for RNA alterations in cancer
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Open AccessA leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation
Non-coding variants coordinate transcription factor (TF) binding and chromatin mark enrichment changes over regions spanning >100 kb. These molecularly coordinated regions are named “variable chromatin modules...
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Open AccessPharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies
Diffuse midline glioma (DMG) is a deadly pediatric and adolescent central nervous system (CNS) tumor localized along the midline structures of the brain atop the spinal cord. With a median overall survival (OS...
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Open AccessMutational mechanisms sha** the coding and noncoding genome of germinal center derived B-cell lymphomas
B cells have the unique property to somatically alter their immunoglobulin (IG) genes by V(D)J recombination, somatic hypermutation (SHM) and class-switch recombination (CSR). Aberrant targeting of these mecha...
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Germline Elongator mutations in Sonic Hedgehog medulloblastoma
Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition acco...
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Open AccessPan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer g...
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Open AccessButler enables rapid cloud-based analysis of thousands of human genomes
We present Butler, a computational tool that facilitates large-scale genomic analyses on public and academic clouds. Butler includes innovative anomaly detection and self-healing functions that improve the eff...
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Open AccessGenomic basis for RNA alterations in cancer
Transcript alterations often result from somatic changes in cancer genomes1. Various forms of RNA alterations have been described in cancer, including overexpression2, altered splicing3 and gene fusions4; however...
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The molecular landscape of ETMR at diagnosis and relapse
Embryonal tumours with multilayered rosettes (ETMRs) are aggressive paediatric embryonal brain tumours with a universally poor prognosis1. Here we collected 193 primary ETMRs and 23 matched relapse samples to inv...
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Open AccessGenomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma
Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, w...
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Open AccessThe whole-genome landscape of medulloblastoma subtypes
Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the develo** child, and highlight the need for molecularly targeted treatments with reduced to...
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Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking
Hanno Glimm, Jan Korbel and colleagues present a computational framework called cis expression structural alteration map** (CESAM), which they use to identify somatic copy-number alterations affecting cis-regul...
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No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients
Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to develo** CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). S...
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Active medulloblastoma enhancers reveal subgroup-specific cellular origins
Medulloblastoma is a highly malignant paediatric brain tumour, often inflicting devastating consequences on the develo** child. Genomic studies have revealed four distinct molecular subgroups with divergent ...
