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Multiomic data identifies skewed X-inactivation and its role in masking Mendelian inheritance patterns

Multiomics
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  • Published on: May 20 2025
LC2025 Rett syndrome multiomics PO_1302

Long-range phasing of whole-genome sequencing data with marked open chromatin regions identifies haplotype-specific expression of disease-related variants in related individuals with differing levels of skewed X-inactivation.

Read the poster to find out how:

  • Local analysis of disease variants does not always explain phenotypic differences in related individuals
  • Long-range phasing of marked open chromatin in whole-genome data identifies skewed X-inactivation
  • Haplotype-specific expression of XIST and MECP2 shows skewed X-inactivation explains phenotypic differences
  • SNP inheritance and differential methylation calling suggest recombination affects X-inactivation rates
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