Integration of global resources for human genetic variation and disease

There is an increasing accumulation of data on disease‐related mutations and associated phenotypes in a wide variety of databases worldwide. Exploiting these data in the context of whole genome sequencing is inhibited because the phenotype information in these databases is often difficult to search...

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Veröffentlicht in:	Human mutation 2012-05, Vol.33 (5), p.813-816
Hauptverfasser:	Schofield, Paul N., Hancock, John M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Databases, Genetic Genetic Association Studies Genetic Predisposition to Disease Genetic Testing Genetic Variation Humans Information Dissemination International Cooperation Knowledge Bases ontology phenotype precision medicine Terminology as Topic variation
Online-Zugang:	Volltext
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