Journal
GENETICS IN MEDICINE
Volume 11, Issue 12, Pages 843-849Publisher
NATURE PUBLISHING GROUP
DOI: 10.1097/GIM.0b013e3181c371c5
Keywords
mutation; LSDB; Human Variome Project; inherited disease databases
Categories
Ask authors/readers for more resources
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. Genet Med 2009:11(12):843-849.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available