Article

Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders

2024-07-19

Abstract excerpt

<title>Abstract</title> <p>Reference genomes serve as a baseline criterion for comparison of personal genomes to deduce clinical variants. The widely used reference genome, GRCh38, contains stretches of gaps and unresolved bases particularly in complex regions which could obscure variant discovery. In contrast, the gapless telomere-to-telomere CHM13 (T2T-CHM13) reference genome can be used to assess difficult reg...

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Literature Corpus work: d3519471-5d60-5a2e-878c-e67843f70076
DOI: 10.21203/rs.3.rs-4624451/v1

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