Additional file 5 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Name: Additional file 5 of A validated heart-specific model for splice-disrupting variants in childhood heart disease
Creator: Postma, Alex V.; Woudstra, Odilia I.; Bezzina, Connie R.; Mital, Seema; Lesurf, Robert; Alsalehi, Mahmoud; Hanafi, Nour; Papaz, Tanya; Winlaw, David S.; Dombrowsky, Gregor; Bouwmeester, Jade; Jain, Anjali; Lougheed, Jane; Mondal, Tapas; Blue, Gillian M.; Oechslin, Erwin; Audain, Enrique; Liang, Yijing; Altamirano-Diaz, Luis; Breckpot, Jeroen; Bouma, Berto J.; Hitz, Marc-Phillip
Published: 2024-10-15 00:00:00
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Figshare2024-10-15 更新2026-04-08 收录

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https://springernature.figshare.com/articles/dataset/Additional_file_5_of_A_validated_heart-specific_model_for_splice-disrupting_variants_in_childhood_heart_disease/27230039/1

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Additional file5: Table S5. High-confidence DNA splicing variants within the CHD (n=48) and cardiomyopathy (n=43) Validation cohorts. All genome-wide high-confidence DNA variants in the CHD and cardiomyopathy Validation cohorts selected by weighted and SMOTE random forest model 4 are shown, along with confirmed variants that were not selected by the model. Variants are annotated by their matching splicing and gene expression outlier statistics obtained from FRASER and OUTRIDER, respectively.

提供机构：

Postma, Alex V.; Woudstra, Odilia I.; Bezzina, Connie R.; Mital, Seema; Lesurf, Robert; Alsalehi, Mahmoud; Hanafi, Nour; Papaz, Tanya; Winlaw, David S.; Dombrowsky, Gregor; Bouwmeester, Jade; Jain, Anjali; Lougheed, Jane; Mondal, Tapas; Blue, Gillian M.; Oechslin, Erwin; Audain, Enrique; Liang, Yijing; Altamirano-Diaz, Luis; Breckpot, Jeroen; Bouma, Berto J.; Hitz, Marc-Phillip

创建时间：

2024-10-15