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The NHRI-RP-1 demonstrated a superior F1 score on local match, genotype concordance and r-squared, as compared to those using worldwide reference genomes, particularly for rare MAFs, particularly for rare MAFs.
Background Chronic kidney disease (CKD) is a major global public health issue, with genetic factors playing a significant role in kidney function. Although genome-wide association studies (GWAS) have identified numerous loci associated with estimated glomerular filtration rate (eGFR), most studies relied on a single ti...
The results highlight the diagnostic utility of this combined strategy, integrating LRS with marker-mediated refinements that validated by MLPA assays, in detecting complex STRC variants and advance the understanding of the genetic etiology of SNHI that remains unresolved by conventional NGS approaches.
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