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BVSim: A benchmarking variation simulator mimicking human variation spectrum.

GigaScience - 6 Jan 2025

Luo Yongyi, Zhang Zhen, Wang Shu, Shi Jiandong, Hao Jingyu, Lian Sheng, Hu Taobo, Ishibashi Toyotaka, Wang Depeng, Yu Weichuan, Fan Xiaodan

Abstract excerpt

BACKGROUND: Genomic variations, including single-nucleotide polymorphisms, small insertions and deletions, and structural variations, are crucial for understanding evolution and disease. However, comprehensive simulation tools for benchmarking genomic analysis methods are lacking. Existing simulators do not accurately represent the nonuniform distribution and length patterns of structural variations in human...

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Identifiers

PMID: 40884802
DOI: 10.1093/gigascience/giaf095
PMCID: PMC12398280

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