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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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Article
Online adgang: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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