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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J.
Afiliación
  • Sullivan PJ; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia.
  • Gayevskiy V; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia.
  • Davis RL; University of New South Wales Centre for Childhood Cancer Research, UNSW Sydney, Sydney, NSW, Australia.
  • Wong M; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia.
  • Mayoh C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia.
  • Mallawaarachchi A; Department of Neurogenetics, Kolling Institute, St. Leonards, NSW, Australia.
  • Hort Y; Sydney Medical School-Northern, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • McCabe MJ; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia.
  • Beecroft S; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia.
  • Jackson MR; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW, Australia.
  • Arts P; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia.
  • Dubowsky A; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, Australia.
  • Laing N; Clinical Genetics Unit, Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, Australia.
  • Dinger ME; Division of Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, Australia.
  • Scott HS; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia.
  • Oates E; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.
  • Pinese M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Cowley MJ; Australian Genomics, Parkville, VIC, Australia.
Genome Biol ; 24(1): 118, 2023 05 17.
Article en En | MEDLINE | ID: mdl-37198692
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Sitios de Empalme de ARN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Sitios de Empalme de ARN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Biol Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Australia