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Resolving the variable genome and epigenome in human disease.
Knight, J C.
Afiliación
  • Knight JC; Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK. julian@well.ox.ac.uk
J Intern Med ; 271(4): 379-91, 2012 Apr.
Article en En | MEDLINE | ID: mdl-22443201
ABSTRACT
The individual human genome and epigenome are being defined at unprecedented resolution by current advances in sequencing technologies with important implications for human disease. This review uses examples relevant to clinical practice to illustrate the functional consequences of genetic and epigenetic variation. The insights gained from genome-wide association studies are described together with current efforts to understand the role of rare variants in common disease, set in the context of recent successes in Mendelian traits through the application of whole exome sequencing. The application of functional genomics to interrogate the genome and epigenome, build up an integrated picture of the regulatory genomic landscape and inform disease association studies is discussed, together with the role of expression quantitative trait mapping and analysis of allele-specific gene expression.
Asunto(s)

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad Límite: Humans Idioma: En Revista: J Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2012 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad Límite: Humans Idioma: En Revista: J Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2012 Tipo del documento: Article País de afiliación: Reino Unido