Dataset Information
Learning a refinement model for variant analysis in non-human primate genomes.
Ontology highlight
ABSTRACT:
SUBMITTER: Choi J
PROVIDER: S-EPMC12379468 | biostudies-literature | 2025 Aug
REPOSITORIES: biostudies-literature
Publications
Learning a refinement model for variant analysis in non-human primate genomes.
BMC genomics 20250825 1
BACKGROUND: Accurate variant calling is essential for genomic studies but is highly dependent on sequence alignment (SA) quality. In non-human primates, the lack of well-curated variant resources limits alignment postprocessing, leading to suboptimal SA and increased miscalls. DeepVariant, a leading variant caller, demonstrates high accuracy in human genomes but exhibits performance degradation under suboptimal SA conditions. RESULTS: To address this, we developed a decision tree-based refinemen ...[more]