Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Success rates for genomic analyses of highly heterogeneous disorders can be greatly improved if a large cohort of patient data is assembled to enhance collective capabilities for accurate sequence variant annotation, analysis, and interpretation. Indeed, molecular diagnostics requires the establishm...

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Gepubliceerd in:Mol Genet Metab
Hoofdauteurs: Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon, Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, Gai, Xiaowu
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512182/
https://ncbi.nlm.nih.gov/pubmed/25542617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.11.016
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