Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges - researchr publication

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Yury A Barbitoff, Mikhail O. Ushakov, Tatyana E. Lazareva, Yulia A Nasykhova, Andrey S. Glotov, Alexander V. Predeus. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges. Briefings in Bioinformatics, 25(2), January 2024. [doi]

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