Article

Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretation

2025-12-30

Abstract excerpt

Recent advances in genomic technologies have greatly enhanced our understanding of genotype–phenotype relationships and improved diagnostic of genetic diseases. However, the dissection of complex structural variants remains challenging due to the limitations of current methods in resolving their breakpoint and interpreting phenotypes involving multiple disrupted genes. In this study, we demonstrate how an integrat...

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Literature Corpus work: 20eaccc5-725c-56b0-8925-adaee0309e3a
DOI: 10.64898/2025.12.29.696952

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