Variobox: Automatic Detection and Annotation of Human Genetic Variants. Issue 2 (21st November 2013)
- Record Type:
- Journal Article
- Title:
- Variobox: Automatic Detection and Annotation of Human Genetic Variants. Issue 2 (21st November 2013)
- Main Title:
- Variobox: Automatic Detection and Annotation of Human Genetic Variants
- Authors:
- Gaspar, Paulo
Lopes, Pedro
Oliveira, Jorge
Santos, Rosário
Dalgleish, Raymond
Oliveira, José Luís - Abstract:
- <abstract abstract-type="graphical" xml:lang="en" id="humu22474-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Variobox is a new tool to support the sequence analysis workflow through the exploration of individual patient genes and their variants, taking advantage of available web‐sourced knowledge. The application obtains up‐to‐date information about a gene and its variants, and is able to align patient sequences with reference genes and automatically infer variant annotations using HGVS nomenclature. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg407qd9vx" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>
- Is Part Of:
- Human mutation. Volume 35:Issue 2(2014:Feb.)
- Journal:
- Human mutation
- Issue:
- Volume 35:Issue 2(2014:Feb.)
- Issue Display:
- Volume 35, Issue 2 (2014)
- Year:
- 2014
- Volume:
- 35
- Issue:
- 2
- Issue Sort Value:
- 2014-0035-0002-0000
- Page Start:
- 202
- Page End:
- 207
- Publication Date:
- 2013-11-21
- Subjects:
- Human chromosome abnormalities -- Periodicals
Mutation (Biology) -- Periodicals
616.04205 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/humu.22474 ↗
- Languages:
- English
- ISSNs:
- 1059-7794
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 4336.217000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 3458.xml