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Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
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Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.
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TAPES: A tool for assessment and prioritisation in exome studies.
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Plos Computational Biology, 2019
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CharGer: clinical Characterization of Germline variants.
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Bioinformatics (oxford, England), 2019
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