title: SNPlice: variants that modulate Intron retention from RNA-sequencing data.
abstract: BACKGROUND
  The growing recognition of the importance of splicing, together with rapidly accumulating RNA-sequencing data, demand robust high-throughput approaches, which efficiently analyze experimentally derived whole-transcriptome splice profiles.
  
  
  RESULTS
  We have developed a computational approach, called SNPlice, for identifying cis-acting, splice-modulating variants from RNA-seq datasets. SNPlice mines RNA-seq datasets to find reads that span single-nucleotide variant (SNV) loci and nearby splice junctions, assessing the co-occurrence of variants and molecules that remain unspliced at nearby exon-intron boundaries. Hence, SNPlice highlights variants preferentially occurring on intron-containing molecules, possibly resulting from altered splicing. To illustrate co-occurrence of variant nucleotide and exon-intron boundary, allele-specific sequencing was used. SNPlice results are generally consistent with splice-prediction tools, but also indicate splice-modulating elements missed by other algorithms. SNPlice can be applied to identify variants that correlate with unexpected splicing events, and to measure the splice-modulating potential of canonical splice-site SNVs.
  
  
  METHODS
  SNPlice is freely available for download from https://code.google.com/p/snplice/ as a self-contained binary package for 64-bit Linux computers and as python source-code.
  
  
  BACKGROUND
  pmudvari@gwu.edu or horvatha@gwu.edu
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Prakriti
authors.initials: P
authors.lastname: Mudvari
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Mercedeh
authors.initials: M
authors.lastname: Movassagh
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Kamran
authors.initials: K
authors.lastname: Kowsari
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Ali
authors.initials: A
authors.lastname: Seyfi
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Maria
authors.initials: M
authors.lastname: Kokkinaki
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Nathan J
authors.initials: NJ
authors.lastname: Edwards
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Nady
authors.initials: N
authors.lastname: Golestaneh
authors.affiliation: McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA McCormick Genomics and Proteomics Center, Department of Biochemistry and Molecular Medicine and Department of Pharmacology and Physiology, The George Washington University, Washington, DC 20037, USA and Department of Ophthalmology, Department of Neurology and Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, School of Medicine, Washington, DC 20057, USA.
authors.forename: Anelia
authors.initials: A
authors.lastname: Horvath
mesh_terms: D000465:Algorithms; D002478:Cells, Cultured; D005091:Exons / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D007438:Introns / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics; D012313:RNA / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D055213:Retinal Pigment Epithelium / Q000166:cytology / Q000378:metabolism*; D017423:Sequence Analysis, RNA / Q000379:methods*; D012984:Software
chemical_list: D012313:RNA