Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

BACKGROUND: Mitochondrial genome sequence analysis is critical to the diagnostic evaluation of mitochondrial disease. Existing methodologies differ widely in throughput, complexity, cost efficiency, and sensitivity of heteroplasmy detection. Affymetrix MitoChip v2.0, which uses a sequencing-by-genot...

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Bibliografiske detaljer
Main Authors: Xie, Hongbo M, Perin, Juan C, Schurr, Theodore G, Dulik, Matthew C, Zhadanov, Sergey I, Baur, Joseph A, King, Michael P, Place, Emily, Clarke, Colleen, Grauer, Michael, Schug, Jonathan, Santani, Avni, Albano, Anthony, Kim, Cecilia, Procaccio, Vincent, Hakonarson, Hakon, Gai, Xiaowu, Falk, Marni J
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2011
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234255/
https://ncbi.nlm.nih.gov/pubmed/22011106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-12-402
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