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Li-Li Li

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Open access Sep 2026

A T2T Benchmark Reveals How Reference Choice Shapes Human Genome Interpretation

It is found that reference choice substantially influences genome interpretation: ancestry-matched linear T2T references provided the most faithful representation of individual genomic variation and enabled more accurate genome reconstruction than unmatched linear, diploid and graph-based references.

Zhuo Huang, Ya-Nan Chu, Ya-Bin Tian et al. · 0 citations
Open access Sep 2026

A framework of Microbial Genomic Database for clinical metagenomic pathogen diagnosis: development and multi-cohort evaluation

Introduction Clinical metagenomic next-generation sequencing (mNGS) enables broad, untargeted pathogen detection, but its analytical performance depends on host depletion strategy, reference database composition, and alignment methodology. We developed the Clinical Microbial Genomic Database (CMGD), a clinically focuse...

Han Xia, Yan-Hua Wen, Xu-Ming Li et al. · 0 citations

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