Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Richard G.H. Cotton, Aida I. Al Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J. Hyland, Finlay A. MacRae, Makia J. Marafie, Mark H. Paalman, George P. Patrinos, Ming Qi, Rajkumar S. Ramesar, Rodney J. Scott, Rolf H. Sijmons, María Jesús Sobrido, Mauno Vihinen

Research output: Contribution to journalComment/debate

36 Citations (Scopus)

Abstract

The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities.

Original languageEnglish
Pages (from-to)843-849
Number of pages7
JournalGenetics in Medicine
Volume11
Issue number12
DOIs
Publication statusPublished - 1 Dec 2009

Keywords

  • Databases
  • Human Variome Project
  • Inherited disease
  • LSDB
  • Mutation

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