Takara

长链PCR：线粒体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).

长链PCR：假基因

癌症(林奇综合症)

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).

遗传药理学

Buermans H.P. et.al. Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing. Hum Mutat. 38, 310-316 (2017).

靶向重测序

癌症| Illumina测序

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).

罕见病

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).

线粒体病

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