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.
· European Journal of Human Ge... · 0 citations