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A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data

Any single nucleotide variant detection study could benefit from a fast and cheap method of measuring the quality of variant call list. It is advantageous to be able to see how the call list quality is affected by different variant filtering thresholds and other adjustments to the study parameters....

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Detalles Bibliográficos
Autor principal: Tuzov, Nik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5918994/
https://www.ncbi.nlm.nih.gov/pubmed/29694377
http://dx.doi.org/10.1371/journal.pone.0196058

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