Phenomics and the Interpretation of Personal Genomes-Reference-Cited by-同舟云学术

Phenomics and the Interpretation of Personal Genomes

Published:2014-09-17 Issue:254 Volume:6 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Petrovski Slavé¹²,Goldstein David B.¹

Affiliation:

1. Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, 27708, USA.

2. Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria 3050, Australia.

Abstract

In contemporary genomics research, phenotype-driven bioinformatics approaches hint at the potential of establishing a framework for quantifying phenotypic similarities among patients.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference10 articles.

1. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

2. Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

3. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

4. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

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