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Author

C. Rosty

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Case report Open access Jul 2026

Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing

It is demonstrated that long-read sequencing can identify structural variants that are missed by current short-read sequencing multi-gene panel testing, improving the diagnosis of Lynch syndrome.

Jihoon E. Joo, Khalid Mahmood, M. Clendenning et al. · 0 citations

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