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

Summary, in English

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.

• Author: 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
• Publishing year: 2009
• Language: English
• Pages: 843-849
• Publication/Series: Genetics in Medicine
• Volume: 11
• Issue: 12
• Links: http://www.ncbi.nlm.nih.gov/pubmed/20010362?dopt=Abstract; http://dx.doi.org/10.1097/GIM.0b013e3181c371c5
• Document type: Journal article
• Publisher: Nature Publishing Group
• Topic: Medical Genetics
• Keywords: Medical: organization & administration; Medical: methods; Genetics; Biomedical Research: methods; Genetic Predisposition to Disease: genetics; Medical: statistics & numerical data
• Status: Published
• ISBN/ISSN/Other: ISSN: 1098-3600