Mughal, S;
Moghul, I;
Yu, J;
Clark, T;
Gregory, DS;
Pontikos, N;
(2017)
Pheno4J: a gene to phenotype graph database.
Bioinformatics
, 33
(20)
pp. 3317-3319.
10.1093/bioinformatics/btx397.
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Abstract
Efficient storage and querying of large amounts of genetic and phenotypic data is crucial to contemporary clinical genetic research. This introduces computational challenges for classical relational databases, due to the sparsity and sheer volume of the data. Our Java based solution loads annotated genetic variants and well phenotyped patients into a graph database to allow fast efficient storage and querying of large volumes of structured genetic and phenotypic data. This abstracts technical problems away and lets researchers focus on the science rather than the implementation. We have also developed an accompanying webserver with end-points to facilitate querying of the database.
| Type: | Article |
|---|---|
| Title: | Pheno4J: a gene to phenotype graph database |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/bioinformatics/btx397 |
| Publisher version: | http://dx.doi.org/10.1093/bioinformatics/btx397 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Technology, Physical Sciences, Biochemical Research Methods, Biotechnology & Applied Microbiology, Computer Science, Interdisciplinary Applications, Mathematical & Computational Biology, Statistics & Probability, Biochemistry & Molecular Biology, Computer Science, Mathematics, EFFICIENT |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Cancer Bio |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10059311 |
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