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OpenVariant: a toolkit to parse and operate multiple input file formats.

Bioinformatics (Oxford, England) - 28 Nov 2024

Martínez-Millán David, Brando Federica, L Grau Miguel, Sánchez-Guixé Mònica, López-Elorduy Carlos, Reyes-Salazar Iker, Deu-Pons Jordi, López-Bigas Núria, González-Pérez Abel

Abstract excerpt

SUMMARY: Advances in high-throughput DNA sequencing technologies and decreasing costs have fueled the identification of small genetic variants (such as single nucleotide variants and indels) across tumors. Despite efforts to standardize variant formats and vocabularies, many sources of variability persist across databases and computational tools that annotate variants, hindering their integration within cancer...

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PMID: 39663244
DOI: 10.1093/bioinformatics/btae714
PMCID: PMC11634536

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