Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant.

doi:10.1111/jcmm.71338

Article

Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant.

Journal of cellular and molecular medicine - 1 Sept 2026

Stolarek Ireneusz, Delimata-Raczek Joanna, Koralewska Natalia, Sikora Klaudia, Rakoczy Magdalena, Marcinkowska-Swojak Małgorzata, Handschuh Luiza, Czyż Jarosław, Figlerowicz Marek

Abstract excerpt

The molecular determinants of phenotypic severity in red cell enzymopathies are often obscured by the disconnect between coding sequence variants and their regulatory landscapes. Here we present a single-patient molecular case study that uses an integrative multi-omic approach-combining short-read WGS, PacBio HiFi long-read sequencing, native CpG methylation profiling, and Iso-Seq full-length transcriptomics-to...

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Topics

Humans
Alleles
Anemia, Hemolytic
CpG Islands
DNA Methylation
Glucose-6-Phosphate Isomerase

Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant.

Abstract excerpt

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