Literature DB >> 28224672

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Abhishek Niroula1, Mauno Vihinen1.   

Abstract

Computational tools are widely used for ranking and prioritizing variants for characterizing their disease relevance. Since numerous tools have been developed, they have to be properly assessed before being applied. Critical Assessment of Genome Interpretation (CAGI) experiments have significantly contributed toward the assessment of prediction methods for various tasks. Within and outside the CAGI, we have addressed several questions that facilitate development and assessment of variation interpretation tools. These areas include collection and distribution of benchmark datasets, their use for systematic large-scale method assessment, and the development of guidelines for reporting methods and their performance. For us, CAGI has provided a chance to experiment with new ideas, test the application areas of our methods, and network with other prediction method developers. In this article, we discuss our experiences and lessons learned from the various CAGI challenges. We describe our approaches, their performance, and impact of CAGI on our research. Finally, we discuss some of the possibilities that CAGI experiments have opened up and make some suggestions for future experiments.
© 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  CAGI; PON-P; PON-P2; mutation prediction; performance assessment measures; variation benchmarks; variation interpretation

Mesh:

Year:  2017        PMID: 28224672      PMCID: PMC5561442          DOI: 10.1002/humu.23199

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


  68 in total

1.  Types and effects of protein variations.

Authors:  Mauno Vihinen
Journal:  Hum Genet       Date:  2015-01-24       Impact factor: 4.132

2.  VariBench: a benchmark database for variations.

Authors:  Preethy Sasidharan Nair; Mauno Vihinen
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

Review 3.  Variation Interpretation Predictors: Principles, Types, Performance, and Choice.

Authors:  Abhishek Niroula; Mauno Vihinen
Journal:  Hum Mutat       Date:  2016-04-15       Impact factor: 4.878

4.  Challenges: Crowdsourced solutions.

Authors:  Eric Bender
Journal:  Nature       Date:  2016-05-12       Impact factor: 49.962

5.  Performance of mutation pathogenicity prediction methods on missense variants.

Authors:  Janita Thusberg; Ayodeji Olatubosun; Mauno Vihinen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

6.  Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Authors:  Janita Thusberg; Mauno Vihinen
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878

Review 7.  Immunodeficiency mutation databases (IDbases).

Authors:  Hilkka Piirilä; Jouni Väliaho; Mauno Vihinen
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878

8.  Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.

Authors:  Jouni Väliaho; Imrul Faisal; Csaba Ortutay; C I Edvard Smith; Mauno Vihinen
Journal:  Hum Mutat       Date:  2015-04-27       Impact factor: 4.878

9.  A validated disease severity scoring system for adults with type 1 Gaucher disease.

Authors:  Neal J Weinreb; Maria D Cappellini; Timothy M Cox; Edward H Giannini; Gregory A Grabowski; Wuh-Liang Hwu; Henry Mankin; Ana Maria Martins; Carolyn Sawyer; Stephan vom Dahl; Michael S Yeh; Ari Zimran
Journal:  Genet Med       Date:  2010-01       Impact factor: 8.822

10.  SNAP: predict effect of non-synonymous polymorphisms on function.

Authors:  Yana Bromberg; Burkhard Rost
Journal:  Nucleic Acids Res       Date:  2007-05-25       Impact factor: 16.971

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  2 in total

1.  Reports from CAGI: The Critical Assessment of Genome Interpretation.

Authors:  Roger A Hoskins; Susanna Repo; Daniel Barsky; Gaia Andreoletti; John Moult; Steven E Brenner
Journal:  Hum Mutat       Date:  2017-09       Impact factor: 4.878

2.  Variation benchmark datasets: update, criteria, quality and applications.

Authors:  Anasua Sarkar; Yang Yang; Mauno Vihinen
Journal:  Database (Oxford)       Date:  2020-01-01       Impact factor: 3.451

  2 in total

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