English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

In genetic diseases with variable age of onset, an accurate estimation of thesurvival function for the mutation carriers and also modifying factors effectsestimations are important for the management of asymptomatic gene carriersacross life. Among the modifying factors, the gender of the parent transmittingthe mutation (i.e. the parent-of-origin effect) has been shown to have asignificant effect on survival curve estimation on transthyretin familialamyloid polyneuropathy (ATTRv) families. However, as most genotypes areunknown, the parent-of-origin must be calculated through a probabilityestimated from the pedigree. We propose in this article to extend the methodproviding mutation carrier survival estimates in order to estimate theparent-of-origin effect. The method is both validated on simulated data andapplied to familly samples with ATTRv.

Study of the Parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv