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Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
View ORCID ProfileJoseph K Aicher, Paul Jewell, Jorge Vaquero-Garcia, View ORCID ProfileYoseph Barash, View ORCID ProfileElizabeth J Bhoj
doi: https://doi.org/10.1101/727586
Joseph K Aicher
1Department of Genetics, University of Pennsylvania
4Center for Applied Genomics, Children’s Hospital of Philadelphia
MAPaul Jewell
1Department of Genetics, University of Pennsylvania
2Department of Computer and Information Science, University of Pennsylvania
BSJorge Vaquero-Garcia
1Department of Genetics, University of Pennsylvania
2Department of Computer and Information Science, University of Pennsylvania
MScYoseph Barash
1Department of Genetics, University of Pennsylvania
2Department of Computer and Information Science, University of Pennsylvania
PhDElizabeth J Bhoj
1Department of Genetics, University of Pennsylvania
3Division of Human Genetics, Children’s Hospital of Philadelphia
4Center for Applied Genomics, Children’s Hospital of Philadelphia
MD, PhDArticle usage
Posted August 06, 2019.
Mapping RNA splicing variations in clinically-accessible and non-accessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
Joseph K Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, Elizabeth J Bhoj
bioRxiv 727586; doi: https://doi.org/10.1101/727586
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