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Inferencia estadística para el equilibrio de Hardy-Weinberg en estudios de genotipado con datos faltantes

Statistical inference for Hardy-Weinberg equilibrium in genotyping studies with missing data
Authors: Sánchez Mayor, Milagros;

Inferencia estadística para el equilibrio de Hardy-Weinberg en estudios de genotipado con datos faltantes

Abstract

Modern genotyping technology generates large databases of markers (SNPs) used in association studies. In such databases, often more than 10% of the data is missing. The aim of this project is to estimate the missing genotype information in several ways: a) by considering each marker separately without any further assumptions, b) by assuming Hardy-Weinberg equilibrium, c) by taking flanking markers into account. Work with empirical genotyping data and simulations form part of the project, as well as comparison of results with existing population-genetic software

Los marcadores genéticos, los SNPs entre ellos, cumplen en general una ley básica, la ley de Hardy-Weinberg (HWE) y existen varios procedimientos estadísticos para comprobar si marcadores genéticos concuerdan con esta ley o no. En las pruebas estadísticas para HWE siempre se descartan los genotipos faltantes. El objetivo de este trabajo consiste en llevar a cabo inferencia para HWE teniendo en cuenta los datos faltantes.

Country
Spain
Keywords

Estadística matemàtica, Modelos de localización general, Marcadores genéticos, Modelo multinomial logit, Àrees temàtiques de la UPC::Matemàtiques i estadística::Estadística matemàtica, Missing data, Genetic markers, Classificació AMS::62 Statistics::62F Parametric inference, Hardy-Weinberg equilibrium, Equilibrio de Hardy-Weinberg, SNPs

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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