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Updated: Nov 17, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Some thoughts on counts in sequencing studies
Juan José Egozcue1, Jan Graffelman2, M Isabel Ortego1
1Department of Civil and Environmental Engineering, Universitat Politecnica de Catalunya, Barcelona, 08034 Spain.
Abstract:
Measurements in sequencing studies are mostly based on counts. There is a lack of theoretical developments for the analysis and modelling of this type of data. Some thoughts in this direction are presented, which might serve as a seed. The main issues addressed are the compositional character of multinomial probabilities and the corresponding representation in orthogonal (isometric) coordinates, and modelling distributions for sequencing data taking into account possible effects of amplification techniques.
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