Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)-Reference-Cited by-同舟云学术

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Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST‐Indel)

Published:2015-10-26 Issue:1 Volume:37 Page:28-35
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Douville Christopher¹,Masica David L.¹,Stenson Peter D.²,Cooper David N.²,Gygax Derek M.³,Kim Rick³,Ryan Michael³,Karchin Rachel¹⁴

Affiliation:

1. Department of Biomedical Engineering and Institute for Computational Medicine The Johns Hopkins University Baltimore Maryland

2. Institute of Medical Genetics School of Medicine Cardiff University Heath Park Cardiff UK

3. In Silico Solutions Fairfax Virginia

4. Department of Oncology Johns Hopkins University School of Medicine Baltimore Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22911

Reference45 articles.

1. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

2. A new disease-specific machine learning approach for the prediction of cancer-causing missense variants

3. Bioinformatics for personal genome interpretation

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