Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

2015111 citationsJournal Articlehybrid Open Access

Authors

William P. Bone · National Institutes of Health

Nicole Washington · Lawrence Berkeley National Laboratory

Orion J. Buske · Hospital for Sick Children

David R. Adams · National Human Genome Research Institute

Joie Davis · Office of the Director

David D. Draper · National Institutes of Health

Elise D. Flynn

Abstract

Structured phenotyping of patients and computational analysis are effective adjuncts for diagnosing patients with genetic disorders.Genet Med 18 6, 608-617.

Topics & Keywords

Genomics and Rare Diseases Biomedical Text Mining and Ontologies Genomics and Phylogenetic Studies

Publication Details

Published in: Genetics in Medicine

Volume 18, Issue 6, pp. 608-617

DOI: 10.1038/gim.2015.137

Field-Weighted Citation Impact: 10.37

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Authors

Abstract

Topics & Keywords

Publication Details