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Author

Edward S. Tobias

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Review Open access Aug 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

It is demonstrated that LRS-based SV analysis, supported by orthogonal SRS re-analysis, can resolve clinically significant SVs in families who remain unsolved after standard rare disease testing.

P. Dutta, A. Pagnamenta, Christelle Robert et al. · 0 citations

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