Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis
Date
2012-10
Authors
Jalali Sefid Dashti
Kotze, Maritha
Janse Van Rensburg, Susan
Christoffels, Alan
Gamieldien, Junaid
Journal Title
Journal ISSN
Volume Title
Publisher
BioMed Central
Abstract
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.
Description
The original publication is available at http://www.biomedcentral.com/1753-6561/6/S6/P10
Keywords
Multiple sclerosis -- Genetic aspects, Relapsing multiple sclerosis -- Genetic aspects
Citation
Jalali Sefid Dashti, M. et al. 2012. Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis. BMC Proceedings, (Suppl 6):P10, doi:10.1186/1753-6561-6-S6-P10.