Article
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
BMC bioinformatics - 19 Oct 2011
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
Abstract excerpt
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-genotyping technology, allows potentially accurate and high-throughput sequencing of the entire human mitochondrial...
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