Ontology highlight
ABSTRACT:
SUBMITTER: Fischer-Hwang I
PROVIDER: S-EPMC6803637 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Fischer-Hwang Irena I Ochoa Idoia I Weissman Tsachy T Hernaez Mikel M
Scientific reports 20191021 1
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 chromo ...[more]