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Author

S. Youn

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Open access Jul 2026

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

It is demonstrated that target capture-based LRS effectively detects diverse types of variants missed by SRS, and integrating this assay into stepwise diagnostic workflows offers a practical and cost-effective strategy to enhance diagnostic yield in autosomal recessive diseases.

Jee-Soo Lee, K. Ryu, Hyesu Lee et al. · 0 citations

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