Resolution of Ring Chromosomes, Robertsonian Translocations, and Complex Structural Variants from Long-Read Sequencing and Telomere-to-telomere Assembly
AMERICAN JOURNAL OF HUMAN GENETICS（2024）
关键词
telomere-to-telomere,ring chromosome,Robertsonian translocation,acrocentric p-arm,long-read sequencing,inversion,optical genome mapping
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