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

Background As known disease-associated variants identified through large cohort-based studies often explain only a small percentage of genetic risk in multifactorial disorders such as multiple sclerosis (MS), alternative methods for identification and prioritization of variants that directly and/or indirectly play a role in disease development have become increasingly important. We were tasked with identifying possible genetic causes in a case of atypical relapsing remitting MS (RRMS) that also presented with porphyrialike symptoms and where demyelination was halted in the patient upon iron supplementation. As the patient had no parents or siblings that could be used as references for filtering exome variants, we aimed to develop a new prioritization strategy based on the combination of a predicted deleterious effect on the protein and existing knowledge of the biological roles of the genes and their contribution to relevant phenotypes.

bmc proceedings

Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis