Title
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks.
Abstract
Motivation: While the size and number of biobanks, patient registries and other data collections are increasing, biomedical researchers still often need to pool data for statistical power, a task that requires time-intensive retrospective integration. Results: To address this challenge, we developed MOLGENIS/connect, a semi-automatic system to find, match and pool data from different sources. The system shortlists relevant source attributes from thousands of candidates using ontology-based query expansion to overcome variations in terminology. Then it generates algorithms that transform source attributes to a common target DataSchema. These include unit conversion, categorical value matching and complex conversion patterns (e.g. calculation of BMI). In comparison to human-experts, MOLGENIS/connect was able to auto-generate 27% of the algorithms perfectly, with an additional 46% needing only minor editing, representing a reduction in the human effort and expertise needed to pool data. Availability and Implementation: Source code, binaries and documentation are available as open-source under LGPLv3 from http://github.com/molgenis/molgenis and www.molgenis.org/connect.
Year
DOI
Venue
2016
10.1093/bioinformatics/btw155
BIOINFORMATICS
Field
DocType
Volume
Data mining,Ontology,Conversion of units,Terminology,Query expansion,Computer science,Categorical variable,Source code,Software,Bioinformatics,Documentation
Journal
32
Issue
ISSN
Citations 
14
1367-4803
3
PageRank 
References 
Authors
0.48
6
14