Takara LA Taq
Long range PCR: mitochondrial DNA
Grady, J. P. et al. Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain 137, 323-34 (2014).
Palculict, M. E., Zhang, V. W., Wong, L.-J. & Wang, J. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing. Methods Mol. Biol. 1351, 3-17 (2016).
Zhang, W., Cui, H. & Wong, L. J. C. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin. Chem. 58, 1322-1331 (2012).
Long range PCR: pseudogene
Cancer (Lynch syndrome)
Judkins T. et.al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer 15, 215 (2015).
Li, J. et al. A comprehensive strategy for accurate mutation detection of the highly homologous PMS2. J. Mol. Diagnostics 17, 545–553 (2015).
Tomsic, J. et al. Recurrent and founder mutations in the PMS2 gene. Clin. Genet. 83, 238–243 (2013).
Vaughn, C. P. et al. Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes. Hum. Mutat. 31, 588–593 (2010).
Buermans H.P. et.al. Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing. Hum Mutat. 38, 310–316 (2017).
Cancer | Illumina sequencing
Lin, T-L., et al. Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2mutations. Haematologica 99, 28-36 (2014).
Margraf, R.L., et al. Multi-sample pooling and Illumina Genome Analyzer sequencing. Methods to determine gene sequence variation for database development. J. Biomol. Tech. 21, 126-140 (2010).
Kitamura, K., et al. Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J. Thrombosis Haemostasis 11, 2071-2073 (2013).
Zhang, W., et al. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clinical Chemistry 58, 1322-1331 (2012).
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