Nanopore quality score resolution can be reduced with little effect on downstream analysis

Rivara-Espasandín, Martín - Balestrazzi, Lucía - Dufort y Álvarez, Guillermo - Ochoa, Idoia - Seroussi, Gadiel - Smircich, Pablo - Sotelo Silveira, José Roberto - Martín, Álvaro

Resumen:

Motivation: The use of high precision for representing quality scores in nanopore sequencing data makes these scores hard to compress and, thus, responsible for most of the information stored in losslessly compressed FASTQ files. This motivates the investigation of the effect of quality score information loss on downstream analysis from nanopore sequencing FASTQ files. Results: We polished de novo assemblies for a mock microbial community and a human genome, and we called variants on a human genome. We repeated these experiments using various pipelines, under various coverage level scenarios and various quality score quantizers. In all cases, we found that the quantization of quality scores causes little difference (or even sometimes improves) on the results obtained with the original (non-quantized) data. This suggests that the precision that is currently used for nanopore quality scores may be unnecessarily high, and motivates the use of lossy compression algorithms for this kind of data. Moreover, we show that even a non-specialized compressor, such as gzip, yields large storage space savings after the quantization of quality scores.


Detalles Bibliográficos
2022
ANII: FSDA_1_2018_1_154790.
Nanopore sequencing
Bioinformatic
Inglés
Universidad de la República
COLIBRI
https://hdl.handle.net/20.500.12008/39617
Acceso abierto
Licencia Creative Commons Atribución (CC - By 4.0)
Resumen:
Sumario:Motivation: The use of high precision for representing quality scores in nanopore sequencing data makes these scores hard to compress and, thus, responsible for most of the information stored in losslessly compressed FASTQ files. This motivates the investigation of the effect of quality score information loss on downstream analysis from nanopore sequencing FASTQ files. Results: We polished de novo assemblies for a mock microbial community and a human genome, and we called variants on a human genome. We repeated these experiments using various pipelines, under various coverage level scenarios and various quality score quantizers. In all cases, we found that the quantization of quality scores causes little difference (or even sometimes improves) on the results obtained with the original (non-quantized) data. This suggests that the precision that is currently used for nanopore quality scores may be unnecessarily high, and motivates the use of lossy compression algorithms for this kind of data. Moreover, we show that even a non-specialized compressor, such as gzip, yields large storage space savings after the quantization of quality scores.