dc.contributor.author | Jalali Sefid Dashti | |
dc.contributor.author | Kotze, Maritha | |
dc.contributor.author | Janse Van Rensburg, Susan | |
dc.contributor.author | Christoffels, Alan | |
dc.contributor.author | Gamieldien, Junaid | |
dc.date.accessioned | 2013-05-15T13:04:31Z | |
dc.date.available | 2013-05-15T13:04:31Z | |
dc.date.issued | 2012-10 | |
dc.identifier.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. | en_ZA |
dc.identifier.issn | 1753-6561 (online) | |
dc.identifier.other | doi:10.1186/1753-6561-6-S6-P10 | |
dc.identifier.uri | http://hdl.handle.net/10019.1/80764 | |
dc.description | The original publication is available at http://www.biomedcentral.com/1753-6561/6/S6/P10 | en_ZA |
dc.description.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. | en_ZA |
dc.format.extent | 2 p. | |
dc.language.iso | en_ZA | en_ZA |
dc.publisher | BioMed Central | en_ZA |
dc.subject | Multiple sclerosis -- Genetic aspects | en_ZA |
dc.subject | Relapsing multiple sclerosis -- Genetic aspects | en_ZA |
dc.title | Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis | en_ZA |
dc.type | Article | en_ZA |
dc.date.updated | 2012-10-01T11:10:20Z | |
dc.description.version | Publishers' Version | en_ZA |
dc.language.rfc3066 | en | |
dc.rights.holder | Mahjoubeh Jalali Sefid Dashti et al.; licensee BioMed Central Ltd. | en_ZA |