@article{article, title = {{Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders}}, publisher = {{Springer Science and Business Media LLC}}, url = {{https://doi.org/10.1038/s41598-021-99747-2 }}, year = {{2021}}, month = {{10}}, author = {{Rowlands C and Thomas HB and Lord J and Wai HA and Arno G and Beaman G and Sergouniotis P and Gomes-Silva B and Campbell C and Gossan N and Hardcastle C et al}}, doi = {{10.1038/s41598-021-99747-2}}, volume = {{11}}, journal = {{Scientific Reports}}, issue = {{1}}, note = {{Accessed on 2026/01/25}}}