Detalle Publicación

Denoising of aligned genomic data

Autores: Fisher-Hwang, I.; Ochoa Álvarez, Idoia
Título de la revista: SCIENTIFIC REPORTS
ISSN: 2045-2322
Volumen: 9
Fecha de publicación: 2019
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 whole genome sequencing (WGS) data sets. In the WGS data set, denoising led to identification of almost 2,000 additional true variants, and elimination of over 1,500 erroneously identified variants. In contrast, we found that denoising with other state-of-the-art denoisers significantly worsens variant calling performance.