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

• Published in: Genetics in medicine Vol. 11; no. 12; pp. 843 - 849
• Main Authors: Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2009
• Subjects: Biomedical and Life Sciences; Biomedical Research - methods; Biomedicine; commentary; Databases, Genetic; Genetic Predisposition to Disease - genetics; Genetic Variation; Genetics, Medical - methods; Genetics, Medical - organization & administration; Genetics, Medical - statistics & numerical data; Human Genetics; Humans; International Cooperation; Laboratory Medicine; Mutation; inherited disease; mutation; databases; Human Variome Project; LSDB
• ISSN: 1098-3600; 1530-0366
• DOI: 10.1097/GIM.0b013e3181c371c5

: 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.