Introduction

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PMID 18180765

MANUSCRIPT ID

Title

A collaborative knowledge base for cognitive phenomics

Authors

FW Sabb, CE Bearden, DC Glahn, DS Parker, N Freimer and RM Bilder

Year

2008

Abstract

The human genome project has stimulated development of impressive repositories of biological knowledge at the genomic level and new knowledge bases are rapidly being developed in a ‘bottom-up’ fashion. In contrast, higher-level phenomics knowledge bases are underdeveloped, particularly with respect to the complex neuropsychiatric syndrome, symptom, cognitive, and neural systems phenotypes widely acknowledged as critical to advance molecular psychiatry research. This gap limits informatics strategies that could improve both the mining and representation of relevant knowledge, and help prioritize phenotypes for new research. Most existing structured knowledge bases also engage a limited set of contributors, and thus fail to leverage recent developments in social collaborative knowledge-building. We developed a collaborative annotation database to enable representa- tion and sharing of empirical information about phenotypes important to neuropsychiatric research (www.Phenowiki.org). As a proof of concept, we focused on findings relevant to ‘cognitive control’, a neurocognitive construct considered important to multiple neuropsy- chiatric syndromes. Currently this knowledge base tabulates empirical findings about heritabilities and measurement properties of specific cognitive task and rating scale indicators (n = 449 observations). It is hoped that this new open resource can serve as a starting point that enables broadly collaborative knowledge-building, and help investigators select and prioritize endophenotypes for translational research.

Keywords

phenotype; cognition; heritability; genetics; cognitive control; informatics

Input Author

fws

MANUSCRIPT DETAILS

Introduction/Aims

Refining cognitive and behavioral phenotypes is crucial for neuropsychiatry. Searching for genes and underlying biology of syndromes will be difficult unless the right phenotypes are being studied.

Current endophenotypes are poorly understood

Using informatics approaches to improve knowledge structure will help

Informatics tools get better as you get closer to the gene (BLAST and gene ontology), but are poor at the level of syndromes/symptoms/behavior (but see cognitive atlas project)

The aim of this paper was to develop a knowledgebase that focuses on these top levels to help examine and select relevant behavioral phenotypes for use in neuropsychiatric gwas studies