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

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dc.contributor.authorJalali Sefid Dashti
dc.contributor.authorKotze, Maritha
dc.contributor.authorJanse Van Rensburg, Susan
dc.contributor.authorChristoffels, Alan
dc.contributor.authorGamieldien, Junaid
dc.date.accessioned2013-05-15T13:04:31Z
dc.date.available2013-05-15T13:04:31Z
dc.date.issued2012-10
dc.date.updated2012-10-01T11:10:20Z
dc.descriptionThe original publication is available at http://www.biomedcentral.com/1753-6561/6/S6/P10en_ZA
dc.description.abstractAs 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.description.versionPublishers' Versionen_ZA
dc.format.extent2 p.
dc.identifier.citationJalali 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.issn1753-6561 (online)
dc.identifier.otherdoi:10.1186/1753-6561-6-S6-P10
dc.identifier.urihttp://hdl.handle.net/10019.1/80764
dc.language.isoen_ZAen_ZA
dc.language.rfc3066en
dc.publisherBioMed Centralen_ZA
dc.rights.holderMahjoubeh Jalali Sefid Dashti et al.; licensee BioMed Central Ltd.en_ZA
dc.subjectMultiple sclerosis -- Genetic aspectsen_ZA
dc.subjectRelapsing multiple sclerosis -- Genetic aspectsen_ZA
dc.titleExome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosisen_ZA
dc.typeArticleen_ZA
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