Universität zu Köln

Nikolic, Milos ORCID: 0000-0003-0029-7601, Papantonis, Argyris ORCID: 0000-0001-7551-1073 and Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 (2017). GARLIC: a bioinformatic toolkit for aetiologically connecting diseases and cell type-specific regulatory maps. Hum. Mol. Genet., 26 (4). S. 742 - 753. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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Abstract

Genome-wide association studies (GWAS) have emerged as a powerful tool to uncover the genetic basis of human common diseases, which often show a complex, polygenic and multi-factorial aetiology. These studies have revealed that 70-90% of all single nucleotide polymorphisms (SNPs) associated with common complex diseases do not occur within genes (i.e. they are non-coding), making the discovery of disease-causative genetic variants and the elucidation of the underlying pathological mechanisms far from straightforward. Based on emerging evidences suggesting that disease-associated SNPs are frequently found within cell type-specific regulatory sequences, here we present GARLIC (GWAS-based Prediction Toolkit for Connecting Diseases and Cell Types), a user-friendly, multi-purpose software with an associated database and online viewer that, using global maps of cis-regulatory elements, can aetiologically connect human diseases with relevant cell types. Additionally, GARLIC can be used to retrieve potential disease-causative genetic variants overlapping regulatory sequences of interest. Overall, GARLIC can satisfy several important needs within the field of medical genetics, thus potentially assisting in the ultimate goal of uncovering the elusive and complex genetic basis of common human disorders.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Nikolic, Milos UNSPECIFIED orcid.org/0000-0003-0029-7601 UNSPECIFIED Papantonis, Argyris UNSPECIFIED orcid.org/0000-0001-7551-1073 UNSPECIFIED Rada-Iglesias, Alvaro UNSPECIFIED orcid.org/0000-0001-7137-1341 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-239706
DOI:	10.1093/hmg/ddw423
Journal or Publication Title:	Hum. Mol. Genet.
Volume:	26
Number:	4
Page Range:	S. 742 - 753
Date:	2017
Publisher:	OXFORD UNIV PRESS
Place of Publication:	OXFORD
ISSN:	1460-2083
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENETIC-VARIATION; COMPLEX DISEASE; RISK VARIANT; ELEMENTS; TRAITS; GENOME; ASSOCIATIONS; ANNOTATION; EXPRESSION; DISCOVERY Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23970