Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.

ABSTRACT: Pedigree analysis remains the gold standard for rare disease diagnostics, yet whole genome sequencing studies typically omit critical regions like centromeres, telomeres, and acrocentric chromosome p-arms. Here, we present telomere-to-telomere (T2T) reference genomes for four self-identified African American individuals of admixed ancestry spanning three generations. Our parent-of-origin assigned, chromosome-level assemblies revealed precise meiotic recombination breakpoints in previously inaccessible regions, including recombination events across acrocentric and subtelomeric sequences. Centromeric regions were highly stable, with multi-megabase arrays inherited intact across three generations, while the position of kinetochore assembly sites remained consistent and predominantly associate

SUBMITTER: Cechova M 

PROVIDER: S-EPMC12746033 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature