Article

Measuring X inactivation skew for retinal diseases with adaptive nanopore sequencing

2024-03-23

Abstract excerpt

X-linked genetic disorders typically affect females less severely than males due 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 females,...

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Literature Corpus work: cd00f87d-990c-52bc-b323-3ff7060ea3e4
DOI: 10.1101/2024.03.20.585856

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