Article

Population-Specific Structural Variant Landscape in a Puerto Rican Rare Disease Cohort

2026-02-24

Abstract excerpt

<title>Abstract</title> <p>The integration of long-read PacBio High-Fidelity (HiFi) sequencing with the complete Telomere-to-Telomere CHM13 (T2T-CHM13) reference genome has enabled thorough characterization of structural variants (SVs) in previously inaccessible genomic regions, yet Puerto Rican and broader admixed populations remain critically underrepresented in these advances. We performed HiFi whole genome se...

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Literature Corpus work: f4def39f-fc42-5d1a-a9b2-c1c2af06e1d1
DOI: 10.21203/rs.3.rs-8544782/v1

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