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1000 Titel
  • The exhaustive genomic scan approach, with an application to rare-variant association analysis
1000 Autor/in
  1. Kanoungi, George |
  2. Nothnagel, Michael |
  3. Becker, Tim |
  4. Drichel, Dmitriy |
1000 Erscheinungsjahr 2020
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-05-15
1000 Erschienen in
1000 Quellenangabe
  • 28(9):1283-1291
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41431-020-0639-3 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608423/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal Article
lokal Genetics
lokal Data processing
lokal Psychiatric disorders
lokal Immunological disorders
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0002-2452-8526|https://orcid.org/0000-0001-8305-7114|https://frl.publisso.de/adhoc/uri/QmVja2VyLCBUaW0=|https://orcid.org/0000-0001-5978-3458
1000 Hinweis
  • DeepGreen-ID: 6d16d146e0434564a4eb4797414e998a ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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1000 @id frl:6471978.rdf
1000 Erstellt am 2023-11-18T17:16:00.907+0100
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1000 Zuletzt bearbeitet 2024-04-04T12:41:04.945+0200
1000 Objekt bearb. Thu Apr 04 12:41:04 CEST 2024
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