Comprehensive resolution of challenging genomic variation with Oxford Nanopore telomere-to-telomere assemblies
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An Oxford Nanopore ultra-long read based telomere-to-telomere (T2T) assembly is applied to six cell lines in order to demonstrate the power of T2T assembly to resolve potential causes of disease in otherwise un-interrogatable repetitive and structurally divergent regions of the genome.
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The assembly methods and statistics
HG002 variant calling performance
The capacity of the method to characterize chromosomal abnormalities and reconstruct SMA loci in putative silent carriers
