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

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 and Paalman, Mark H, et al. (2009) In Genetics in Medicine 11(12). p.843-849
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... (More)
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. (Less)
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Contribution to journal
publication status
published
subject
keywords
Medical: organization & administration, Medical: methods, Genetics, Biomedical Research: methods, Genetic Predisposition to Disease: genetics, Medical: statistics & numerical data
in
Genetics in Medicine
volume
11
issue
12
pages
843 - 849
publisher
Lippincott Williams & Wilkins
external identifiers
  • pmid:20010362
  • scopus:73849093160
ISSN
1098-3600
DOI
10.1097/GIM.0b013e3181c371c5
language
English
LU publication?
no
id
66b19467-3fc2-4623-801b-d0cf99a4a0c4 (old id 3634753)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20010362?dopt=Abstract
date added to LUP
2013-06-12 20:39:15
date last changed
2017-10-01 04:55:05
@article{66b19467-3fc2-4623-801b-d0cf99a4a0c4,
  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.},
  author       = {Cotton, Richard G H and Al Aqeel, Aida I and Al-Mulla, Fahd and Carrera, Paola and Claustres, Mireille and Ekong, Rosemary and Hyland, Valentine J and Macrae, Finlay A and Marafie, Makia J and Paalman, Mark H and Patrinos, George P and Qi, Ming and Ramesar, Rajkumar S and Scott, Rodney J and Sijmons, Rolf H and Sobrido, María-Jesús and Vihinen, Mauno},
  issn         = {1098-3600},
  keyword      = {Medical: organization & administration,Medical: methods,Genetics,Biomedical Research: methods,Genetic Predisposition to Disease: genetics,Medical: statistics & numerical data},
  language     = {eng},
  number       = {12},
  pages        = {843--849},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Genetics in Medicine},
  title        = {Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.},
  url          = {http://dx.doi.org/10.1097/GIM.0b013e3181c371c5},
  volume       = {11},
  year         = {2009},
}