Article

Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive Conditions

2025-07-29

Abstract excerpt

<title>Abstract</title> <p> Background Genomic structural variants (SV) underlie genomic diversity and human diseases, encompassing various types of deletions/duplications and genomic rearrangements. Current methods experience challenges in precisely identifying and determining SV composition which often lead to incorrect interpretation and/or missing detection of clinically significant variants. Here, we introd...

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Literature Corpus work: 52195705-1f6e-559f-b90e-77c3e97d0bc5
DOI: 10.21203/rs.3.rs-7097535/v1

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