2026

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation

Lucas et al. 2026. bioRxiv.

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation
Telomere Dysfunction in Human Astrocytes Drives Acrocentric Chromosome Instability and Nucleolar Reorganization

Mbegbu et al. 2026. bioRxiv.

Telomere Dysfunction in Human Astrocytes Drives Acrocentric Chromosome Instability and Nucleolar Reorganization
KaryoScope: rapid, alignment-free sequence annotation for the pangenome era

Ranallo-Benavidez et al. 2026. bioRxiv.

KaryoScope: rapid, alignment-free sequence annotation for the pangenome era
A complete human pancreatic cancer genome

Wagner et al. 2026. bioRxiv.

A complete human pancreatic cancer genome
Single-molecule variation in telomeric sequence and structure across humans

Dubocanin et al. 2026. bioRxiv.

Single-molecule variation in telomeric sequence and structure across humans
Haplotype-resolved genome assemblies of BJ and IMR-90 human fibroblast cell lines reveal extensive structural variation and enable reanalysis of historical sequencing data

Ranallo-Benavidez et al. 2026. NAR.

Haplotype-resolved genome assemblies of BJ and IMR-90 human fibroblast cell lines reveal extensive structural variation and enable reanalysis of historical sequencing data
Chromosome-arm-specific telomere length governs dual modes of structural genome evolution in IDH-mutant astrocytoma

Jehangir et al. 2026. bioRxiv.

Chromosome-arm-specific telomere length governs dual modes of structural genome evolution in IDH-mutant astrocytoma
Hierarchical genomic feature annotation with variable-length queries

Alanko et al. 2026. bioRxiv.

Hierarchical genomic feature annotation with variable-length queries

2025

Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic

Park et al. 2025. Nature Biotechnology.

Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Uncommon Territory: The Clinical and Molecular Profile of Metastatic Gliomas

Barthel. 2025. Neuro-Oncology.

Uncommon Territory: The Clinical and Molecular Profile of Metastatic Gliomas
Mapping the Telomeric 3D Interactome with Telomere-C Reveals Repetitive Element Hubs Associated with Telomere Maintenance

Chen et al. 2025. bioRxiv.

Mapping the Telomeric 3D Interactome with Telomere-C Reveals Repetitive Element Hubs Associated with Telomere Maintenance
Cell-Free DNA Sequencing Uncovers the Longitudinal Consequences of Temozolomide Treatment and Host Co-Culture in Glioblastoma

Mankame et al. 2025. bioRxiv.

Cell-Free DNA Sequencing Uncovers the Longitudinal Consequences of Temozolomide Treatment and Host Co-Culture in Glioblastoma

2024

The epigenetic evolution of glioma is determined by the IDH1 mutation status and treatment regimen

Malta et al. 2024. Cancer Res.

The epigenetic evolution of glioma is determined by the IDH1 mutation status and treatment regimen

2023

Anaplerotic nutrient stress drives synergy of angiogenesis inhibitors with therapeutics targeting tumor metabolism

Anaplerotic nutrient stress drives synergy of angiogenesis inhibitors with therapeutics targeting tumor metabolism

2022

PDPN marks a subset of aggressive and radiation-resistant glioblastoma cells

Modrek et al. 2022. Frontiers in Oncology.

PDPN marks a subset of aggressive and radiation-resistant glioblastoma cells
Glioma progression is shaped by genetic evolution and microenvironment interactions

Varn et al. 2022. Cell.

Glioma progression is shaped by genetic evolution and microenvironment interactions
The Molecular Anatomy of Diffuse Gliomas in Adults

The Molecular Anatomy of Diffuse Gliomas in Adults

2021

Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response

Johnson et al. 2021. Nat Genet.

Single-cell multimodal glioma analyses identify epigenetic regulators of cellular plasticity and environmental stress response
Spatial concordance of DNA methylation classification in diffuse glioma

Verburg et al. 2021. Neuro-Oncology

Spatial concordance of DNA methylation classification in diffuse glioma
Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer

Kocakavuk et al. 2021. Nat Genet.

Radiotherapy is associated with a deletion signature that contributes to poor outcomes in patients with cancer

2020

Glioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions

Wen et al. 2020. Neuro Oncol.

Glioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions
Comparative Molecular Life History of Spontaneous Canine and Human Gliomas

Amin et al. 2020. Cancer Cell.

Comparative Molecular Life History of Spontaneous Canine and Human Gliomas
Molecular and clonal evolution in recurrent metastatic gliosarcoma

Anderson et al. 2019. Cold Spring Harb Mol Case Stud.

Molecular and clonal evolution in recurrent metastatic gliosarcoma

2019

Longitudinal molecular trajectories of diffuse glioma in adults

Barthel et al. 2019. Nature.

Longitudinal molecular trajectories of diffuse glioma in adults

2018

Evolving Insights into the Molecular Neuropathology of Diffuse Gliomas in Adults

Barthel et al. 2018. Neurol Clin.

Evolving Insights into the Molecular Neuropathology of Diffuse Gliomas in Adults
The Tandem Duplicator Phenotype Is a Prevalent Genome-Wide Cancer Configuration Driven by Distinct Gene Mutations

Menghi et al. 2018. Cancer Cell.

The Tandem Duplicator Phenotype Is a Prevalent Genome-Wide Cancer Configuration Driven by Distinct Gene Mutations
Reconstructing the molecular life history of gliomas

Barthel et al. 2018. Acta Neuropathol.

Reconstructing the molecular life history of gliomas
TumorFusions: an integrative resource for cancer-associated transcript fusions

Hu et al. 2018. Nucleic Acids Res.

TumorFusions: an integrative resource for cancer-associated transcript fusions

2017

Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas

Cancer Genome Atlas Research Network. 2017. Cell.

Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
Tumor Evolution of Glioma-Intrinsic Gene Expression Subtypes Associates with Immunological Changes in the Microenvironment

Wang et al. 2017. Cancer Cell.

Tumor Evolution of Glioma-Intrinsic Gene Expression Subtypes Associates with Immunological Changes in the Microenvironment
Multigene signature for predicting prognosis of patients with 1p19q co-deletion diffuse glioma

Hu et al. 2017. Neuro Oncol.

Multigene signature for predicting prognosis of patients with 1p19q co-deletion diffuse glioma
Systematic analysis of telomere length and somatic alterations in 31 cancer types

Barthel et al. 2017. Nat Genet.

Systematic analysis of telomere length and somatic alterations in 31 cancer types

2016

Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma

Ceccarelli, Barthel, Malta, Sabedot et al. 2016. Cell.

Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma