Universität zu Köln

Kanoungi, George ORCID: 0000-0002-2452-8526, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Becker, Tim and Drichel, Dmitriy ORCID: 0000-0001-5978-3458 (2020). The exhaustive genomic scan approach, with an application to rare-variant association analysis. Eur. J. Hum. Genet., 28 (9). S. 1283 - 1292. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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Abstract

Region-based genome-wide scans are usually performed by use of a priori chosen analysis regions. Such an approach will likely miss the region comprising the strongest signal and, thus, may result in increased type II error rates and decreased power. Here, we propose a genomic exhaustive scan approach that analyzes all possible subsequences and does not rely on a prior definition of the analysis regions. As a prime instance, we present a computationally ultraefficient implementation using the rare-variant collapsing test for phenotypic association, the genomic exhaustive collapsing scan (GECS). Our implementation allows for the identification of regions comprising the strongest signals in large, genome-wide rare-variant association studies while controlling the family-wise error rate via permutation. Application of GECS to two genomic data sets revealed several novel significantly associated regions for age-related macular degeneration and for schizophrenia. Our approach also offers a high potential to improve genome-wide scans for selection, methylation, and other analyses.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kanoungi, George UNSPECIFIED orcid.org/0000-0002-2452-8526 UNSPECIFIED Nothnagel, Michael UNSPECIFIED orcid.org/0000-0001-8305-7114 UNSPECIFIED Becker, Tim UNSPECIFIED UNSPECIFIED UNSPECIFIED Drichel, Dmitriy UNSPECIFIED orcid.org/0000-0001-5978-3458 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-333684
DOI:	10.1038/s41431-020-0639-3
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	28
Number:	9
Page Range:	S. 1283 - 1292
Date:	2020
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MACULAR DEGENERATION; SEQUENCE; COMMON; REGIONS; HTRA1 Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/33368