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Complete and haplotype-resolved maps of genomic and epigenetic discordance in monozygotic twins

2025-10-26

Abstract excerpt

Telomere-to-telomere (T2T) genome assemblies are indispensable for accurate detection of genetic variation and for resolving complex repetitive regions. Monozygotic (MZ) twin pedigrees provide a powerful model to investigate de novo mutations (DNMs), however, comprehensive, haplotype-resolved analyses of structural variation (SV), allele-specific inheritance in complex regions, and DNA methylation in diploid huma...

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Literature Corpus work
a631135d-b76d-5128-af74-793104d9a0a9
DOI
10.1101/2025.10.24.684490
Open publication

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Complete and haplotype-resolved maps of genomic and epigenetic discordance in monozygotic twinsDOI 10.1101/2025.10.24.684490
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