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Sep 2026

Bioinformatics for human long-read whole-genome sequencing

This Primer outlines the computational foundations of long-read whole-genome analysis in human genomics, spanning read processing, mapping, de novo assembly, multi-class variant detection, haplotype phasing, repeat analysis and epigenetic profiling, and highlights key analytical trade-offs between mapping-based and ass...

Xin-Chang Zheng, P. Sanio, Rui-Bang Luo et al. · 0 citations

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