Takara LA Taq

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. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin. Chem. 58, 1322–1331 (2012).              

Cancer

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).

Rare diseases

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).

Mitochondrial disorders

Zhang, W., et al. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clinical Chemistry 58, 1322-1331 (2012).