Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Conclusion
T-LRS is an effective method for identifying missing pathogenic variants. Although limitations with computational prediction algorithms can hinder the interpretation of variants, T-LRS is particularly effective in identifying intronic variants.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Miller, D. E., Lee, L., Galey, M., Kandhaya-Pillai, R., Tischkowitz, M., Amalnath, D., Vithlani, A., Yokote, K., Kato, H., Maezawa, Y., Takada-Watanabe, A., Takemoto, M., Martin, G. M., Eichler, E. E., Hisama, F. M., Oshima, J. Tags: Open access Diagnostics Source Type: research