Article
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.
Molecular genetics and metabolism - 1 Mar 2015
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 F, Zhang Zhe, Copeland William C, van Oven Mannis, Prokisch Holger, Wallace Douglas C, Attimonelli Marcella, Krotoski Danuta, Zuchner Stephan, Gai Xiaowu
Abstract excerpt
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 establishment of robust data resources to enable data sharing that informs accurate understanding of genes, variants, and...
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