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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Thormann, Anja; Halachev, Mihail; McLaren, William; Moore, David J; Svinti, Victoria; Campbell, Archie; Kerr, Shona M; Tischkowitz, Marc; Hunt, Sarah E; Dunlop, Malcolm G; Hurles, Matthew E; Wright, Caroline F; Firth, Helen V; Cunningham, Fiona; FitzPatrick, David R.
Affiliation
  • Thormann A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Halachev M; MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • McLaren W; South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, EH4 2XU, UK.
  • Moore DJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Svinti V; South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, EH4 2XU, UK.
  • Campbell A; MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Kerr SM; Centre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Tischkowitz M; Usher Institute for Population Health Sciences and Informatics, The University of Edinburgh, Nine Edinburgh BioQuarter, 9 Little France Road, Edinburgh, EH16 4UX, UK.
  • Hunt SE; Centre for Genomic and Experimental Medicine, Institute of Genetics & Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Dunlop MG; Clinical Genetic Department, Addenbrooke's Hospital Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.
  • Hurles ME; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
  • Wright CF; MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Firth HV; Edinburgh Cancer Research Centre, Institute of Genetics & Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Cunningham F; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
  • FitzPatrick DR; University of Exeter Medical School, RILD Level 4, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK.
Nat Commun ; 10(1): 2373, 2019 05 30.
Article in En | MEDLINE | ID: mdl-31147538
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Developmental Disabilities / Genetic Testing / Exome Sequencing Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Developmental Disabilities / Genetic Testing / Exome Sequencing Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2019 Document type: Article Affiliation country: Country of publication: