2019
DOI: 10.1101/590372
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Denoising of Aligned Genomic Data

Abstract: Noise in genomic sequencing data is known to have effects on various stages of genomic data analysis pipelines. Variant identification is an important step of many of these pipelines, and is increasingly being used in clinical settings to aid medical practices. We propose a denoising method, dubbed SAMDUDE, which operates on aligned genomic data in order to improve variant calling performance. Denoising human data with SAMDUDE resulted in improved variant identification in both individual chromosome as well as… Show more

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Cited by 3 publications
(1 citation statement)
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“…Earlier works on metagenomics binning achieved good performance by applying different strategies for clustering. However, they ignored the potential factors in real-world conditions that influence the quality of metagenomic short reads, such as the low total biomass of microbial-derived genomes in clinical isolates [12] and the imperfect genomic sequencing process, for example, base substitutions, insertions, and deletions [13]. As a consequence of the factors, metagenomic sequences are susceptible to the noise issue, such as contamination noise and alignment noise [12].…”
Section: Introductionmentioning
confidence: 99%
“…Earlier works on metagenomics binning achieved good performance by applying different strategies for clustering. However, they ignored the potential factors in real-world conditions that influence the quality of metagenomic short reads, such as the low total biomass of microbial-derived genomes in clinical isolates [12] and the imperfect genomic sequencing process, for example, base substitutions, insertions, and deletions [13]. As a consequence of the factors, metagenomic sequences are susceptible to the noise issue, such as contamination noise and alignment noise [12].…”
Section: Introductionmentioning
confidence: 99%