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Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.

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Title: Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Authors: Barbitoff, Yury A1,2, barbitoff@bioinf.me, Ushakov, Mikhail O1, Lazareva, Tatyana E1, Nasykhova, Yulia A1, Glotov, Andrey S1, barbitoff@bioinf.me, Predeus, Alexander V2, barbitoff@bioinf.me
Source: Briefings in Bioinformatics; Mar2024, Vol. 25 Issue 2, p1-15, 15p
Database: Applied Science & Technology Source
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ISSN:14675463
DOI:10.1093/bib/bbad508