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Towards precision nephrology: the opportunities and challenges of genomic medicine.
Nestor, Jordan G; Groopman, Emily E; Gharavi, Ali G.
Afiliación
  • Nestor JG; Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.
  • Groopman EE; Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.
  • Gharavi AG; Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA. ag2239@columbia.edu.
J Nephrol ; 31(1): 47-60, 2018 02.
Article en En | MEDLINE | ID: mdl-29043570
The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genómica / Medicina de Precisión / Enfermedades Renales / Nefrología Tipo de estudio: Diagnostic_studies / Prognostic_studies / Sysrev_observational_studies Límite: Humans Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genómica / Medicina de Precisión / Enfermedades Renales / Nefrología Tipo de estudio: Diagnostic_studies / Prognostic_studies / Sysrev_observational_studies Límite: Humans Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos