Article

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

2025-12-16

Abstract excerpt

<h4>Summary</h4> 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...

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Literature Corpus work: 12ad0c19-9113-5141-aa80-e401be1a8f12
DOI: 10.64898/2025.12.14.693655

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