2026-10-15T06:09:43Z https://data.mendeley.com/oai

oai:data.mendeley.com/c3r9chw9rb.1 2023-05-30T20:08:04Z

van Boxtel, Bioinformatics Comprehensive single-cell genome analysis at nucleotide resolution using the PTA Analysis Toolbox Mendeley Data We developed a comprehensive bioinformatic workflow, called the PTA Analysis Toolbox (PTATO), to accurately detect single base substitutions, insertions-deletions (indels) and structural variants in PTA-based WGS data. PTATO includes a machine learning approach and filtering based on recurrency to distinguish PTA-artefacts from true mutations with high sensitivity (up to 90%), outperforming existing bioinformatic approaches. Our results show that PTATO enables studying somatic mutagenesis in the genomes of single cells with unprecedented sensitivity and accuracy. Genomics Cancer DNA Mutation Fanconi Anemia DNA Mutation Pediatric Acute Myeloid Leukemia Genome Sequencing Dataset doi:10.17632/c3r9chw9rb.1 oai:data.mendeley.com/c3r9chw9rb.1 Creative Commons Attribution 4.0 International http://creativecommons.org/licenses/by/4.0 https://data.mendeley.com/datasets/c3r9chw9rb 2023-05-30T20:08:04Z