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Joana Damas et al.
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Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle
John P. Grady et al.
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MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis
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Sylvie Bannwarth et al.
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Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories
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NEUROTHERAPEUTICS (2013)
ART: a next-generation sequencing read simulator
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Katarzyna Tonska et al.
GENE (2012)
Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice
R. D. S. Pitceathly et al.
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ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information
Shin Suzuki et al.
BMC BIOINFORMATICS (2011)
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
Bekim Sadikovic et al.
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The Sequence Alignment/Map format and SAMtools
Heng Li et al.
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BLAST plus : architecture and applications
Christiam Camacho et al.
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Circos: An information aesthetic for comparative genomics
Martin Krzywinski et al.
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Shintaro Yamashita et al.
JOURNAL OF HUMAN GENETICS (2008)
Mitochondrial DNA analysis in clinical laboratory diagnostics
LJC Wong et al.
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A novel polymerase γ mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
M Mancuso et al.
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DM Kirby et al.
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CT Moraes et al.
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LP He et al.
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