Reference : Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and T...
Scientific congresses, symposiums and conference proceedings : Paper published in a book
Life sciences : Genetics & genetic processes
Engineering, computing & technology : Computer science
Systems Biomedicine
http://hdl.handle.net/10993/32872
Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and Their Annotations
English
Kutzera, Joachim mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
24-Oct-2017
DILS 2017: Data Integration in the Life Sciences
Da Silveira, Marcos
Pruski, Cédric
Schneider, Reinhard mailto
Springer
Lecture Notes in Computer Science, Vol. 10649; Lecture Notes in Bioinformatics
22-28
Yes
No
International
978-3-319-69751-2
Data Integration in the Life Sciences 2017
from 14-11-2017 to 15-11-2017
Marcos DA SILVEIRA, Luxembourg Institute of Science and Technology
Cédric PRUSKI, Luxembourg Institute of Science and Technology
Reinhard SCHNEIDER, University of Luxembourg
Luxembourg
Luxembourg
[en] Genetics ; NGS
[en] Next Generation Sequencing (NGS) allows sequencing of a human genome within hours, enabling large scale applications such as sequencing the genome of each patient in a clinical study. Each individual human genome has about 3.5 Million genetic differences to the so called reference genome, the consensus genome of a healthy human. These differences, called variants, determine individual phenotypes, and certain variants are known to indicate disease predispositions. Finding associations from variant patterns and affected genes to these diseases requires combined analysis of variants from multiple individuals and hence, efficient solutions for accessing and filtering the variant data. We present Variant-DB, our in-house database solution that allows such efficient access to millions of variants from hundreds to thousands of individuals. Variant-DB stores individual variant genotypes and annotations. It features a REST-API and a web-based front-end for filtering variants based on annotations, individuals, families and studies. We explain Variant-DB and its front-end and demonstrate how the Variant-DB API can be included in data integration workflows.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Researchers
http://hdl.handle.net/10993/32872
10.1007/978-3-319-69751-2_3

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