Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders
IntroductionBalanced chromosomal abnormalities (BCAs) are structural variations that can underlie a wide spectrum of neurodevelopmental disorders, often remaining undetected by conventional diagnostic approaches. Whole-genome sequencing (WGS) allows for base-pair resolution of structural variants ac...
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| Principais autores: | , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Frontiers Media S.A.
2025-07-01
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| 叢編: | Frontiers in Genetics |
| 主題: | |
| 在線閱讀: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1603513/full |
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