Joseph K. Aicher
University of Pennsylvania
10 Papers
Joseph K. Aicher is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Gene & RNA splicing. The author has an hindex of 5, co-authored 8 publications. Previous affiliations of Joseph K. Aicher include Children's Hospital of Philadelphia & University of North Carolina at Chapel Hill.
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Papers
Enhanced Integrated Gradients: improving interpretability of deep learning models using splicing codes as a case study.
TL;DR: It is demonstrated that EIG improves upon the original Integrated Gradients method and produces sets of informative features and is applied to identify A1CF as a key regulator of liver-specific alternative splicing.
Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
TL;DR: Many splicing events in non-CATs are inadequately evaluated using RNA-seq from CATs, which allows users to explore which accessible tissues, if any, best represent splicing in genes and tissues of interest.
RNA splicing analysis using heterogeneous and large RNA-seq datasets
Jorge Vaquero-Garcia,Joseph K. Aicher,Paul Jewell,Matthew R. Gazzara,Caleb M. Radens,Anupama Jha,Christopher J Green,Scott Norton,Nicholas F. Lahens,Gregory R. Grant,Yoseph Barash +10 more
TL;DR: A suite of algorithms and tools implemented in the MAJIQ v2 package are described in this paper to address challenges in detection, quantification, and visualization of splicing variations from such datasets.
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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R. Baker,Marisa W. Friederich,Michael A. Swanson,Tamim H. Shaikh,Kaustuv Bhattacharya,Gunter Scharer,Joseph K. Aicher,Geralyn Creadon-Swindell,Elizabeth A. Geiger,Kenneth N. Maclean,Wang-Tso Lee,Charu Deshpande,Mary Louise Freckmann,Ling Yu Shih,Melissa P. Wasserstein,Malene B. Rasmussen,Allan M. Lund,Peter Procopis,Jessie M. Cameron,Brian H. Robinson,Garry K. Brown,Ruth M. Brown,Alison G. Compton,Carol L. Dieckmann,Renata Collard,Curtis R. Coughlin,Elaine B. Spector,Michael F. Wempe,Johan L.K. Van Hove +28 more
TL;DR: The recognition of variant nonketotic hyperglycinemia is important for physicians evaluating patients with abnormalities in glycine as this will affect the genetic causation and genetic counselling, and provide prognostic information on the expected phenotypic course.