Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

VariBench: A Benchmark Database for Variations

Nair, Preethy Sasidharan and Vihinen, Mauno LU orcid (2013) In Human Mutation 34(1). p.42-49
Abstract
Several computational methods have been developed for predicting the effects of rapidly expanding variation data. Comparison of the performance of tools has been very difficult as the methods have been trained and tested with different datasets. Until now, unbiased and representative benchmark datasets have been missing. We have developed a benchmark database suite, VariBench, to overcome this problem. VariBench contains datasets of experimentally verified high-quality variation data carefully chosen from literature and relevant databases. It provides the mapping of variation position to different levels (protein, RNA and DNA sequences, protein three-dimensional structure), along with identifier mapping to relevant databases. VariBench... (More)
Several computational methods have been developed for predicting the effects of rapidly expanding variation data. Comparison of the performance of tools has been very difficult as the methods have been trained and tested with different datasets. Until now, unbiased and representative benchmark datasets have been missing. We have developed a benchmark database suite, VariBench, to overcome this problem. VariBench contains datasets of experimentally verified high-quality variation data carefully chosen from literature and relevant databases. It provides the mapping of variation position to different levels (protein, RNA and DNA sequences, protein three-dimensional structure), along with identifier mapping to relevant databases. VariBench contains the first benchmark datasets for variation effect analysis, a field which is of high importance and where many developments are currently going on. VariBench datasets can be used, for example, to test performance of prediction tools as well as to train novel machine learning-based tools. New datasets will be included and the community is encouraged to submit high-quality datasets to the service. VariBench is freely available at http://structure.bmc.lu.se/VariBench. Hum Mutat 34:42-49, 2013. (C) 2012 Wiley Periodicals, Inc. (Less)
Please use this url to cite or link to this publication:
author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
benchmark, genetic variation, variant position mapping, mutation, variant effect analysis, variant effect prediction
in
Human Mutation
volume
34
issue
1
pages
42 - 49
publisher
John Wiley & Sons Inc.
external identifiers
  • wos:000314476900005
  • scopus:84871614593
  • pmid:22903802
ISSN
1059-7794
DOI
10.1002/humu.22204
language
English
LU publication?
yes
id
b39fd80f-5edc-41bb-9288-9ae3c03d6621 (old id 3674785)
date added to LUP
2016-04-01 11:14:47
date last changed
2022-04-20 18:07:41
@article{b39fd80f-5edc-41bb-9288-9ae3c03d6621,
  abstract     = {{Several computational methods have been developed for predicting the effects of rapidly expanding variation data. Comparison of the performance of tools has been very difficult as the methods have been trained and tested with different datasets. Until now, unbiased and representative benchmark datasets have been missing. We have developed a benchmark database suite, VariBench, to overcome this problem. VariBench contains datasets of experimentally verified high-quality variation data carefully chosen from literature and relevant databases. It provides the mapping of variation position to different levels (protein, RNA and DNA sequences, protein three-dimensional structure), along with identifier mapping to relevant databases. VariBench contains the first benchmark datasets for variation effect analysis, a field which is of high importance and where many developments are currently going on. VariBench datasets can be used, for example, to test performance of prediction tools as well as to train novel machine learning-based tools. New datasets will be included and the community is encouraged to submit high-quality datasets to the service. VariBench is freely available at http://structure.bmc.lu.se/VariBench. Hum Mutat 34:42-49, 2013. (C) 2012 Wiley Periodicals, Inc.}},
  author       = {{Nair, Preethy Sasidharan and Vihinen, Mauno}},
  issn         = {{1059-7794}},
  keywords     = {{benchmark; genetic variation; variant position mapping; mutation; variant effect analysis; variant effect prediction}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{42--49}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Human Mutation}},
  title        = {{VariBench: A Benchmark Database for Variations}},
  url          = {{http://dx.doi.org/10.1002/humu.22204}},
  doi          = {{10.1002/humu.22204}},
  volume       = {{34}},
  year         = {{2013}},
}