Benchmarking deep learning splice prediction tools using functional splice assays-Reference-Cited by-同舟云学术

Benchmarking deep learning splice prediction tools using functional splice assays

Published:2021-05-20 Issue:7 Volume:42 Page:799-810
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Riepe Tabea V.¹²^ORCID,Khan Mubeen²^ORCID,Roosing Susanne²^ORCID,Cremers Frans P. M.²^ORCID,'t Hoen Peter A. C.¹^ORCID

Affiliation:

1. Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen The Netherlands

2. Department of Human Genetics and Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24212

Reference54 articles.

1. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

2. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

3. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

4. Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

5. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

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