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Enhancing the detection of complex disease loci by new approaches to imputation

Gorski, Mathias (2017) Enhancing the detection of complex disease loci by new approaches to imputation. PhD, Universität Regensburg.

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Date of publication of this fulltext: 02 Feb 2017 13:27

Abstract (English)

Genotype imputation infers variants, which are not directly assayed in study subjects, by matching inferred study haplotypes with those in external reference panels. Inferred variants are subsequently used to identify genetic loci associated with complex disease. Technological advances in genotyping and sequencing technologies have created a novel generation of high density reference panels, ...

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Translation of the abstract (German)

Genotyp-Imputation schätzt genetische Varianten in Teilnehmern einer Studie, die nicht direkt gemessen wurden, indem sie übereinstimmende Abschnitte der Haplotypen in den Studienteilnehmern mit denen aus externen Referenz-Haplotypen zur Deckung bringt. Diese geschätzten Varianten können anschließend genutzt werden um genetischer Regionen zu identifizieren, die hoch assoziiert sind mit komplexen ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:2 February 2017
Referee:Prof. Dr. Iris Heid and Prof. Dr. Carsten Böger
Date of exam:23 February 2016
Institutions:Medicine > Institut für Epidemiologie und Präventivmedizin
Keywords:Genotype Imputation, Haplotype, Kidney Function, Age Related Macula Degeneration, Genome Wide Association Meta-analysis
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:33460
Owner only: item control page

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