Publication: Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes
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Maggi, J., Feil, S., Gloggnitzer, J., Maggi, K., Bachmann-Gagescu, R., Gerth-Kahlert, C., Koller, S., & Berger, W. (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25, 9569. https://doi.org/10.3390/ijms25179569
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The contribution of splicing variants to molecular diagnostics of inherited diseases is reported to be less than 10%. This figure is likely an underestimation due to several factors including difficulty in predicting the effect of such variants, the need for functional assays, and the inability to detect them (depending on their locations and the sequencing technology used). The aim of this study was to assess the utility of Nanopore sequencing in characterizing and quantifying aberrant splicing events. For this purpose, we selected 1
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- Feil, Silke
- Maggi, Kevin
- Gerth-Kahlert, Christina
- Koller, Samuel
- Berger, Wolfgang
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Publications of Institute of Medical Genetics
Publications of Institute of Medical Molecular Genetics (former)
Publications of Institute of Molecular Life Sciences
Publications of Neuroscience Center Zurich
Publications of Zurich Center for Integrative Human Physiology (ZIHP)
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Maggi, J., Feil, S., Gloggnitzer, J., Maggi, K., Bachmann-Gagescu, R., Gerth-Kahlert, C., Koller, S., & Berger, W. (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25, 9569. https://doi.org/10.3390/ijms25179569
