Article
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2009
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
Abstract excerpt
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...
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