The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity-Reference-Cited by-同舟云学术

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

Published:2015-03-26 Issue:5 Volume:36 Page:513-523
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Grimm Dominik G.¹²³,Azencott Chloé‐Agathe¹⁴⁵⁶,Aicheler Fabian¹²,Gieraths Udo¹,MacArthur Daniel G.⁷⁸⁹,Samocha Kaitlin E.⁷⁸⁹,Cooper David N.¹⁰,Stenson Peter D.¹⁰,Daly Mark J.⁷⁸⁹,Smoller Jordan W.⁹¹¹¹²,Duncan Laramie E.⁷⁸⁹,Borgwardt Karsten M.¹²³

Affiliation:

1. Machine Learning and Computational Biology Research Group Max Planck Institute for Intelligent Systems and Max Planck Institute for Developmental Biology Tübingen Germany

2. Zentrum für Bioinformatik Eberhard Karls Universität Tübingen Tübingen Germany

3. Department for Biosystems Science and Engineering ETH Zürich Basel Switzerland

4. MINES ParisTech PLS Research University CBIO – Centre for Computational Biology Fontainebleau France

5. Institut Curie Paris France

6. INSERM Paris France

7. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston Massachusetts

8. Harvard Medical School Department of Medicine Boston Massachusetts

9. Broad Institute of MIT and Harvard Cambridge Massachusetts

10. Institute of Medical Genetics School of Medicine Cardiff University Cardiff UK

11. Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston Massachusetts

12. Harvard Medical School Department of Psychiatry Boston Massachusetts

Funder

National Institute of Mental Health

Alfried Krupp von Bohlen und Halbach-Stiftung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22768

Reference45 articles.

1. A method and server for predicting damaging missense mutations

2. PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

3. BLAST+: architecture and applications

4. Collective judgment predicts disease-associated single nucleotide variants

5. Identification of deleterious mutations within three human genomes

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