Publications
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ZORA Publication List
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Publications
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2024
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Journal Article
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Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications. Molecular Cytogenetics, 17(1):26.
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cancercelllines.org-a novel resource for genomic variants in cancer cell lines. Database, 2024:baae030.
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Data-driven information extraction and enrichment of molecular profiling data for cancer cell lines. Bioinformatics advances, 4(1):vbae045.
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Twelve quick tips for deploying a Beacon. PLoS Computational Biology, 20(3):e1011817.
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labelSeg : Segment Annotation for Tumor Copy Number Alteration Profiles. Briefings in Bioinformatics, 25(2):bbad541.
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2023
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Journal Article
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GA4GH Phenopackets: A Practical Introduction. Advanced Genetics, 4(1):2200016.
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Candidate targets of copy number deletion events across 17 cancer types. Frontiers in Genetics, 13:1017657.
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2022
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Journal Article
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The GA4GH Phenopacket schema defines a computable representation of clinical data. Nature Biotechnology, 40(6):817-820.
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Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond. Human Mutation, 43(6):791-799.
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Working Paper
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Candidate targets of copy number deletion events across 17 cancer types. bioRxiv 498080, Cold Spring Harbor Laboratory.
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2021
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Journal Article
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The Progenetix oncogenomic resource in 2021. Database, 2021:baab043.
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Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes. Frontiers in Genetics, 12:654887.
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Working Paper
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The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine. medRxiv 21266944, Cold Spring Harbor Laboratory.
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The Progenetix oncogenomic resource in 2021. bioRxiv 428237, Cold Spring Harbor Laboratory.
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The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation. bioRxiv 426843, Cold Spring Harbor Laboratory.
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2020
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Journal Article
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DNA Copy Number Changes in Diffuse Large B Cell Lymphomas. Frontiers in Oncology, 10:584095.
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Minimum error calibration and normalization for genomic copy number analysis. Genomics, 112(5):3331-3341.
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Enabling population assignment from cancer genomes with SNP2pop. Scientific Reports, 10:4846.
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Oncology Informatics: Status Quo and Outlook. Oncology, 98(Suppl. 6):329-331.
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Geographic assessment of cancer genome profiling studies. Database, 2020:baaa009.
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Mountains and Chasms: Surveying the Oncogenomic Publication Landscape. Oncology, 98(Suppl. 6):332-343.
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A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants. Nature Genetics, 52:448-457.
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The Ubiquitin Ligase TRIP12 Limits PARP1 Trapping and Constrains PARP Inhibitor Efficiency. Cell Reports Medicine, 32(5):107985.
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2019
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Journal Article
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Leveraging European infrastructures to access 1 million human genomes by 2022. Nature Reviews. Genetics, 20(11):693-701.
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DNA copy number imbalances in primary cutaneous lymphomas. Journal of the European Academy of Dermatology and Venerology, 33(6):1062-1075.
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Federated discovery and sharing of genomic data using Beacons. Nature Biotechnology, 37(3):220-224.
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2018
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Journal Article
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Registered access: authorizing data access. European Journal of Human Genetics, 26(12):1721-1731.
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segment_liftover : a Python tool to convert segments between genome assemblies. F1000Research, 7:319.
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Working Paper
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DNA copy number imbalances in primary cutaneous lymphomas (PCL). bioRxiv 417766, Cold Spring Harbor Laboratory.
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Enabling population assignment from cancer genomes with SNP2pop. bioRxiv 368647, Cold Spring Harbor Laboratory.
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2017
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Journal Article
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Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma. Cancer Cell, 32(4):520-537.e5.
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2016
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Journal Article
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CNARA: reliability assessment for genomic copy number profiles. BMC Genomics, 17:799.
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The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases. Nucleic Acids Research, 44(D1):D27-37.
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Hg-95integrated molecular meta-analysis of 1000 paediatric high grade glioma and dipg. Neuro-Oncology, 18(suppl 3):iii70.3-iii70.
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2015
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Journal Article
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arrayMap 2014: an updated cancer genome resource. Nucleic Acids Research, 43:D825-D830.
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2014
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Journal Article
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Progenetix: 12 years of oncogenomic data curation. Nucleic Acids Research, 42(D1):D1055-D1062.
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Biopsying parapsoriasis: quo vadis? Are morphological stains enough or are ancillary tests needed?. Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie, 55(3 Suppl):1085-92.
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2013
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Journal Article
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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain: a Journal of Neurology, 136(12):3634-3644.
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PKC signaling prevents irradiation-induced apoptosis of primary human fibroblasts. Cell Death and Disease, 4:e498.
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High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas. Genes, Chromosomes and Cancer, 52(2):150-155.
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2012
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Journal Article
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