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Article

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

Genome research - 20 Nov 2024

Gocuk Sena A, Lancaster James, Su Shian, Jolly Jasleen K, Edwards Thomas L, Hickey Doron G, Ritchie Matthew E, Blewitt Marnie E, Ayton Lauren N, Gouil Quentin

Abstract excerpt

X-linked genetic disorders typically affect females less severely than males owing to the presence of a second X Chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is crucial to understand and predict disease phenotype in carrier...

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Share to Choroideremia
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Eye Proteins

Share to Genetic Diseases, X-Linked

Share to Nanopore Sequencing

Share to Retinitis Pigmentosa

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 39284686
DOI: 10.1101/gr.279396.124
PMCID: PMC11610576

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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