Literature DB >> 22903802

VariBench: a benchmark database for variations.

Preethy Sasidharan Nair1, Mauno Vihinen.   

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.
© 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22903802     DOI: 10.1002/humu.22204

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  63 in total

1.  The road from next-generation sequencing to personalized medicine.

Authors:  Manuel L Gonzalez-Garay
Journal:  Per Med       Date:  2014       Impact factor: 2.512

2.  Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.

Authors:  Chengliang Dong; Peng Wei; Xueqiu Jian; Richard Gibbs; Eric Boerwinkle; Kai Wang; Xiaoming Liu
Journal:  Hum Mol Genet       Date:  2014-12-30       Impact factor: 6.150

3.  Proper reporting of predictor performance.

Authors:  Mauno Vihinen
Journal:  Nat Methods       Date:  2014-08       Impact factor: 28.547

Review 4.  Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.

Authors:  Haiming Tang; Paul D Thomas
Journal:  Genetics       Date:  2016-06       Impact factor: 4.562

5.  Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning.

Authors:  Arun Prasad Pandurangan; Tom L Blundell
Journal:  Protein Sci       Date:  2019-11-25       Impact factor: 6.725

6.  On human disease-causing amino acid variants: statistical study of sequence and structural patterns.

Authors:  Marharyta Petukh; Tugba G Kucukkal; Emil Alexov
Journal:  Hum Mutat       Date:  2015-04-06       Impact factor: 4.878

Review 7.  Principles and methods of in-silico prioritization of non-coding regulatory variants.

Authors:  Phil H Lee; Christian Lee; Xihao Li; Brian Wee; Tushar Dwivedi; Mark Daly
Journal:  Hum Genet       Date:  2017-12-29       Impact factor: 4.132

8.  VIPdb, a genetic Variant Impact Predictor Database.

Authors:  Zhiqiang Hu; Changhua Yu; Mabel Furutsuki; Gaia Andreoletti; Melissa Ly; Roger Hoskins; Aashish N Adhikari; Steven E Brenner
Journal:  Hum Mutat       Date:  2019-08-17       Impact factor: 4.878

9.  Investigating the linkage between disease-causing amino acid variants and their effect on protein stability and binding.

Authors:  Yunhui Peng; Emil Alexov
Journal:  Proteins       Date:  2016-01-11

Review 10.  Towards precision medicine: advances in computational approaches for the analysis of human variants.

Authors:  Thomas A Peterson; Emily Doughty; Maricel G Kann
Journal:  J Mol Biol       Date:  2013-08-17       Impact factor: 5.469

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