Search Results - "de Vos, Sam"
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Trecode: A FAIR Eco-System for the Analysis and Archiving of Omics Data in a Combined Diagnostic and Research Setting
Published in BioMedInformatics (01-03-2023)“…The increase in speed, reliability, and cost-effectiveness of high-throughput sequencing has led to the widespread clinical application of genome (WGS), exome…”
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Abstract B009: The Dutch childhood cancer genome project: Data-driven precision medicine and research
Published in Cancer research (Chicago, Ill.) (05-09-2024)“…Abstract Despite improvements in cure rates, cancer is still the leading cause of disease-related deaths among children in high-income countries. As childhood…”
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Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors
Published in Cell genomics (13-11-2024)“…In pediatric cancer, structural variants (SVs) and copy-number alterations contribute to cancer initiation as well as progression, thereby aiding diagnosis and…”
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Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors
Published in Cancers (05-10-2022)“…Chromosomal alterations have recurrently been identified in Wilms tumors (WTs) and some are associated with poor prognosis. Gain of 1q (1q+) is of special…”
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