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Paper Details

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Brief Bioinform
3
2023
RNA, disease-causing variants, genetic diseases, patient, patients, pre-messenger RNA, rare disease, rare diseases, splice
Author NameAffiliation
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigUniversity of Pennsylvania
Andrew C EdmondsonCenter for Computational and Genomic Medicine, Children's Hospital of Philadelphia
Andrew C EdmondsonChildren's Hospital of Philadelphia
Lan LinUniversity of Pennsylvania
Lan LinRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
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