Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3634753
- author
- 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
and Vihinen, Mauno
LU
(Less) - publishing date
- 2009
- type
- 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
- Nature Publishing Group
- 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
- 2016-04-04 07:07:30
- date last changed
- 2022-01-29 01:44:10
@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}},
keywords = {{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 = {{Nature Publishing Group}},
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}},
doi = {{10.1097/GIM.0b013e3181c371c5}},
volume = {{11}},
year = {{2009}},
}