Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines-Reference-Cited by-同舟云学术

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

Published:2013-08-13 Issue:10 Volume:34 Page:1424-1431
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Walker Logan C.¹,Whiley Phillip J.,Houdayer Claude²,Hansen Thomas V. O.³,Vega Ana⁴,Santamarina Marta⁵,Blanco Ana⁴,Fachal Laura⁴,Southey Melissa C.⁶,Lafferty Alan,Colombo Mara⁷,De Vecchi Giovanna⁷,Radice Paolo⁷,Spurdle Amanda B.⁸,

Affiliation:

1. Department of Pathology; University of Otago; Christchurch; New Zealand

2. Service de Génétique, INSERM U830, Institut Curie et Université Paris Descartes; Sorbonne Paris Cité; Paris; France

3. Center for Genomic Medicine; Copenhagen University Hospital; Rigshospitalet; Copenhagen; Denmark

4. Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC; CIBERER, IDIS; Santiago de Compostela; Spain

5. Grupo de Medicina Xenómica -USC, University of Santiago de Compostela; CIBERER; IDIS; Santiago de Compostela; Spain

6. Epidemiology Laboratory, Department of Pathology; The University of Melbourne; Melbourne; Victoria; Australia

7. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine; Fondazione IRCCS Istituto Nazionale dei Tumouri (INT); Milan; Italy

8. Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division; Queensland Institute of Medical Research; Herston; Queensland; Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22388/fullpdf

Reference31 articles.

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