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gEVAL - a web-based browser for evaluating genome assemblies.
Chow, William; Brugger, Kim; Caccamo, Mario; Sealy, Ian; Torrance, James; Howe, Kerstin.
Afiliación
  • Chow W; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Brugger K; East Anglian Medical Genetics Centre, Cambridge University Hospitals, NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  • Caccamo M; National Institute of Agricultural Botany, Cambridge CB3 0LE, UK.
  • Sealy I; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Torrance J; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Howe K; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Bioinformatics ; 32(16): 2508-10, 2016 08 15.
Article en En | MEDLINE | ID: mdl-27153597
ABSTRACT
MOTIVATION For most research approaches, genome analyses are dependent on the existence of a high quality genome reference assembly. However, the local accuracy of an assembly remains difficult to assess and improve. The gEVAL browser allows the user to interrogate an assembly in any region of the genome by comparing it to different datasets and evaluating the concordance. These analyses include a wide variety of sequence alignments, comparative analyses of multiple genome assemblies, and consistency with optical and other physical maps. gEVAL highlights allelic variations, regions of low complexity, abnormal coverage, and potential sequence and assembly errors, and offers strategies for improvement. Although gEVAL focuses primarily on sequence integrity, it can also display arbitrary annotation including from Ensembl or TrackHub sources. We provide gEVAL web sites for many human, mouse, zebrafish and chicken assemblies to support the Genome Reference Consortium, and gEVAL is also downloadable to enable its use for any organism and assembly. AVAILABILITY AND IMPLEMENTATION Web Browser http//geval.sanger.ac.uk, Plugin http//wchow.github.io/wtsi-geval-plugin CONTACT kj2@sanger.ac.uk SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genómica / Navegador Web Límite: Animals / Humans Idioma: En Revista: Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genómica / Navegador Web Límite: Animals / Humans Idioma: En Revista: Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido