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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2011
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Acceso en línea: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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