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Analysis of Genetic Analysis Workshop 18 data with gene-based penalized regression

Under the premise that multiple causal variants exist within a disease gene and that we are underpowered to detect these variants individually, a variety of methods have been developed that attempt to cluster rare variants within a gene so that the variants may gather strength from one another. Thes...

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Detalles Bibliográficos
Autores principales: Ayers, Kristin L, Cordell, Heather J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143805/
https://www.ncbi.nlm.nih.gov/pubmed/25519325
http://dx.doi.org/10.1186/1753-6561-8-S1-S43
Descripción
Sumario:Under the premise that multiple causal variants exist within a disease gene and that we are underpowered to detect these variants individually, a variety of methods have been developed that attempt to cluster rare variants within a gene so that the variants may gather strength from one another. These methods group variants by gene or proximity, and test one gene or marker window at a time. We propose analyzing all genes simultaneously with a penalized regression method that enables grouping of all (rare and common) variants within a gene while subgrouping rare variants, thus borrowing strength from both rare and common variants within the same gene. We apply this approach using a burden based weighting of the rare variants to the Genetic Analysis Workshop 18 data.