AFQuery Benchmarking Data
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资源简介:
Benchmarking data for AFQuery, a bitmap-indexed allele frequency engine for clinical genomics cohorts. Includes: (1) query performance results demonstrating O(1) latency across 1K–50K samples; (2) build performance and parallelisation scaling; (3) annotation throughput benchmarks; (4) concordance validation against bcftools (R²=1.0 on >1M variants); (5) capture kit impact analysis on ACMG variant classification showing 10–45x reduction in false-positive pathogenic calls with technology-aware allele number computation.
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Zenodo创建时间:
2026-03-28



