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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Genet Metab
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2014
Θέματα:
Article
Διαθέσιμο Online: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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