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 Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

The boundaries between congenital myopathies and muscular dystrophies and other neuromuscular disorders are becoming blurred because of the significant overlap in disease genes, clinical presentations, and histopathological features. Using a MotorPlex7.0 gene panel in massive sequencing, we define disease causative mutations in 76% of our sample. We then analysed the extent of gene information in the data using non metric multidimensional scaling (nMDS), a well-known algorithm for multivariate analysis, and clustering techniques. To perform this analysis, we developed a software that allows for an interactive exploration of the variants dataset and of the results of the nMDS model. Using these techniques, we were able to quickly study a dataset consisting of thousands of variants, identifying groupings of patients based on the presence or absence of specific sets of mutations.

A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies