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Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

Next-generation sequencing of DNA provides an unprecedented opportunity to discover rare genetic variants associated with complex diseases and traits. However, the common practice of first calling underlying genotypes and then treating the called values as known is prone to false positive findings,...

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Detalles Bibliográficos
Autores principales: Hu, Yi-Juan, Liao, Peizhou, Johnston, H. Richard, Allen, Andrew S., Satten, Glen A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859496/
https://www.ncbi.nlm.nih.gov/pubmed/27152526
http://dx.doi.org/10.1371/journal.pgen.1006040