Statistical inference for Hardy-Weinberg equilibrium in genotyping studies with missing data

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.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 softwar