Associated Papers
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome.
Li J et al.
Frontiers in Oncology, 2020
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