Reference : Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and T...

	Document type :	Scientific congresses, symposiums and conference proceedings : Paper published in a book
	Discipline(s) :	Life sciences : Genetics & genetic processes Engineering, computing & technology : Computer science
	Focus Areas :	Systems Biomedicine
	To cite this reference:	http://hdl.handle.net/10993/32872

Title :	Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and Their Annotations
Language :	English
Author, co-author :	Kutzera, Joachim [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
	May, Patrick [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Publication date :	24-Oct-2017
Main document title :	DILS 2017: Data Integration in the Life Sciences
Author, co-author :	Da Silveira, Marcos
	Pruski, Cédric
	Schneider, Reinhard
Publisher :	Springer
Collection and collection volume :	Lecture Notes in Computer Science, Vol. 10649; Lecture Notes in Bioinformatics
Pages :	22-28
Peer reviewed :	Yes
On invitation :	No
Audience :	International
ISBN :	978-3-319-69751-2
Event name :	Data Integration in the Life Sciences 2017
Event date :	from 14-11-2017 to 15-11-2017
Event organizer :	Marcos DA SILVEIRA, Luxembourg Institute of Science and Technology
	Cédric PRUSKI, Luxembourg Institute of Science and Technology
	Reinhard SCHNEIDER, University of Luxembourg
Event place (city) :	Luxembourg
Event country :	Luxembourg
Keywords :	[en] Genetics ; NGS
Abstract :	[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.
Research centres :	Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Name of the research project :	NCER-PD
Target :	Researchers
Permalink :	http://hdl.handle.net/10993/32872
DOI :	10.1007/978-3-319-69751-2_3

	File(s) associated to this reference
	Fulltext file(s): File Commentary Version Size Access Limited access springer_print_proof_447048_1_En_3_Chapter_Author.pdf Author preprint 961.11 kB Request a copy

All documents in ORBi^lu are protected by a user license.

 

University of Luxembourg Library |  Feedback |  Legal notices Site Map