Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Name: Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Creator: Scott, Hamish S.; Sullivan, Patricia J.; Davis, Ryan L.; Hort, Yvonne; Mayoh, Chelsea; Arts, Peer; Jackson, Matilda R.; Oates, Emily; Gayevskiy, Velimir; Cowley, Mark J.; Laing, Nigel; Dubowsky, Andrew; Dinger, Marcel E.; McCabe, Mark J.; Mallawaarachchi, Amali; Wong, Marie; Beecroft, Sarah; Pinese, Mark
Published: 2023-05-18T00:00:00+08:00

Figshare2023-05-18 更新2026-04-08 收录

剪接变异预测

临床基因组学

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Introme_accurately_predicts_the_impact_of_coding_and_noncoding_variants_on_gene_splicing_with_clinical_applications/22914479/1 数据链接链接失效反馈

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资源简介：

Additional file 1: Table S1. Experimentally validated variants from SpliceVarDB used to train and test Introme. Table S2. Variants experimentally validated using RT-PCR for splice-altering changes by SA Pathology. Table S3. Features in Introme. Table S4. Variants used for allele frequency assessment.

提供机构：

Scott, Hamish S.; Sullivan, Patricia J.; Davis, Ryan L.; Hort, Yvonne; Mayoh, Chelsea; Arts, Peer; Jackson, Matilda R.; Oates, Emily; Gayevskiy, Velimir; Cowley, Mark J.; Laing, Nigel; Dubowsky, Andrew; Dinger, Marcel E.; McCabe, Mark J.; Mallawaarachchi, Amali; Wong, Marie; Beecroft, Sarah; Pinese, Mark

创建时间：

2023-05-18