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. 2017 Jan;81(1):9-16.
doi: 10.1002/ana.24835.

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Joyeeta Rahman  1 , Alberto Noronha  2 , Ines Thiele  2 , Shamima Rahman  1   3
Affiliations

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Joyeeta Rahman et al. Ann Neurol. 2017 Jan.
No abstract available

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Figures

Figure 1
Figure 1
Conceptualization of the Leigh Map. The Leigh Map is a novel computational resource that effectively integrates a large amount of phenotypic and genetic data from the literature and synthesizes it into a comprehensive resource that has the potential to improve diagnostic outcomes and more vigilant clinical surveillance for patients with Leigh syndrome. WES = whole exome sequencing.
Figure 2
Figure 2
Schematic layout of the Leigh Map. The Leigh Map is a novel gene‐to‐phenotype network that can be used as a diagnostic resource for Leigh syndrome. The layout and navigation of the Leigh Map are similar to those of Google Maps, wherein the user zooms in on components to reveal further layers of information. (A) The outermost part of the Leigh Map is a simplified diagram of the cell. (B, C) Clicking on a compartment (eg, the mitochondrion) reveals categories of genes associated with Leigh syndrome (B), and zooming in on subcompartments within the mitochondrion reveals individual genes (C). (D) Detailed information about a specific gene defect can be accessed by clicking on a gene (SURF1 in this example), which will display a left‐hand panel that provides additional information and external annotations. (E) Each gene contains a "submodel" that can be accessed by clicking. Gene submodels display all phenotypes associated with the gene of interest (a total of 96 phenotypes in the case of SURF1 deficiency). Live screenshots of the Leigh Map are provided in Supplementary Figure 1.
Figure 3
Figure 3
Querying the Leigh Map. (A–C) All phenotypic and genetic components of the Leigh Map can be queried using the search function in the left‐hand panel. The user can query a particular gene by typing the name of the gene or any known alias into the search box. The results of the search will be displayed in the left‐hand panel, and the matching gene(s) will become marked on the network (A). Phenotypes can be queried in the same way. The results of a phenotype search will display all genes associated with the queried phenotype (B). Multiple phenotypes can be queried simultaneously by separating phenotypes with a semicolon. The results of a multiple phenotype search will be displayed in different tabbed panels through which the user can navigate (C). (D) Clicking on the gene's submodel in any multiple phenotype search will display all highlighted phenotypes from the query.
See this image and copyright information in PMC

References

    1. Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: what is new and what challenges remain? Science 2015;349:1494. - PubMed
    1. Wortmann SB, Koolen DA, Smeitink JA, et al. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis 2015;38:437–443. - PMC - PubMed
    1. Lake NJ, Compton AG, Rahman S, et al. Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol 2016;79:190–203. - PubMed
    1. Rahman S, Blok RB, Dahl H‐HM, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343–351. - PubMed
    1. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216–221. - PMC - PubMed

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