A generalized Watterson estimator for next-generation sequencing: From trios to autopolyploids

Several variations of the Watterson estimator of variability for Next Generation Sequencing (NGS) data have been proposed in the literature. We present a unified framework for generalized Watterson estimators based on Maximum Composite Likelihood, which encompasses most of the existing estimators. W...

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Detalhes bibliográficos
Autores: Ferretti, Luca, Ramos-Onsins, Sebastian E.
Formato: artículo
Estado:Versión enviada para evaluación y publicación
Fecha de publicación:2015
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/247808
Acesso em linha:http://hdl.handle.net/10261/247808
Access Level:acceso abierto
Palavra-chave:Site frequency spectrum
Population genetics
Summary statistics
Maximum likelihood
Descrição
Resumo:Several variations of the Watterson estimator of variability for Next Generation Sequencing (NGS) data have been proposed in the literature. We present a unified framework for generalized Watterson estimators based on Maximum Composite Likelihood, which encompasses most of the existing estimators. We propose this class of unbiased estimators as generalized Watterson estimators for a large class of NGS data, including pools and trios. We also discuss the relation with the estimators proposed in the literature and show that they admit two equivalent but seemingly different forms, deriving a set of combinatorial identities as a byproduct. Finally, we give a detailed treatment of Watterson estimators for single or multiple autopolyploid individuals.