Article
Deciphering Haplotype-level Chromosome Conformation Alteration in Down Syndrome by Haplotype-resolved Multi-omics Analysis.
Genomics, proteomics & bioinformatics - 22 Sept 2025
Wu Chengchao, Zhou Tianshu, Ke Wenfu, Xiong Wei, Zhang Zhihui, Zhang Siheng, Wang Jinyue, Deng Lulu, Yan Keji, Wang Man, He Shenglong, Gong Qi, Ma Chao, Chen Xiaping, Li Yan, Long He, Guo Chong, Cao Gang, Zhang Zhijun
Abstract excerpt
For chromosome abnormalities (CAs), such as Down syndrome (DS), the influence of genomic variations on chromosome conformation and gene transcription remains elusive. Based on the complete genomic sequences from the parents of a DS trisomy patient, we systematically delineated an atlas of parental-specific, haplotype-resolved single nucleotide polymorphisms (SNPs), copy number variations (CNVs), three-dimensional...
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