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Published on: March 22, 2019
Minimal absent words in four human genome assemblies.
Sara P Garcia1, Armando J Pinho
1Signal Processing Laboratory, Institute of Electronics and Telematics Engineering of Aveiro, University of Aveiro, Aveiro, Portugal. spgarcia@ua.pt
Human genome variation was studied using minimal absent words across four assemblies. Sequencing and assembly methods significantly impact large word variations, with capillary-based assemblies showing more similarity.
Area of Science:
- Genomics
- Bioinformatics
- Comparative genomics
Background:
- Minimal absent words (MAWs) are short DNA sequences absent in a genome.
- MAWs provide insights into genomic structure and evolution.
- Previous studies have computed MAWs across various species.
Purpose of the Study:
- To investigate the variation in number and content of MAWs within the human species.
- To compare human genome assemblies and identify factors influencing MAW content.
- To contribute to the catalogue of human genomic variation.
Main Methods:
- Comparative analysis of four human genome assemblies: GRCh37, HuRef, NA12878, and YH.
- Computation and analysis of minimal absent words across these assemblies.
- Assessment of variations based on sequence length and assembly technology.
Main Results:
- Variation in MAW content is more significant for large and very large MAWs.
- Sequencing and assembly methodologies introduce biases affecting MAW content.
- Human genome assemblies using capillary-based technologies (GRCh37, HuRef) show greater similarity than those using massively parallel technologies (NA12878, YH).
- Intraspecies MAW variation is smaller than interspecies variation.
Conclusions:
- Human genome assemblies exhibit significant variation in minimal absent words, particularly for longer sequences.
- Assembly technology influences the observed genomic variation.
- Comparative analysis of MAWs aids in understanding species-specific genomic characteristics.
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