Takara

靶向重测序

癌症| Illumina测序

Sakaguchi, H., et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nature Genetics 45, 937-941 (2013).

法医学|环境微生物学

Kakizaki, E., et al. Detection of diverse aquatic microbes in blood and organs of drowning victims: First metagenomic approach using high-throughput 454-pyrosequencing. Forensic Sci. 220, 135-146 (2012).

免疫学

Hosomichi, K., et al. Phase-defined complete sequencing of the HLA genes by Next-Generation Sequencing. BMC Genomics 14, 355 (2013).

Izawa, K., et al. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res. 19, 143-152 (2012).

Shiina, T., et al.Super high resolution for single molecule-sequence-based typing of classical HLA loci at the 8-digit level using next generation sequencers. Tissue Antigens 80, 305-316 (2012).

病原体

Al-Khedery, B., et al. Structure of the type IV secretion system in different strains of Anaplasma phagocytophilum. BMC Genomics 13, 678 (2012).

Novitsky, V. et al. Long-range HIV genotyping using viral RNA and proviral DNA for analysis of HIV drug resistance and HIV clustering. J. Clin. Microbiol. 53, 2581-2592 (2015).

Ode, H. et al. Quasispecies analyses of the HIV-1 Near-full-length genome with illumina MiSeq. Front. Microbiol. 6, 1258 (2015).

Takeda, T. S., Sugiyama, M. A. & Kanto, T. A. Establishment of a practical workflow using a next generation sequencer to search for novel SNPs associated with the anti - HCV treatment response. Juntendo Med. J. 60, 568-575 (2014).

干细胞| Illumina测序

Sugiura, M., et al. Induced pluripotent stem cell generation-associated point mutations arise during the initial stages of the conversion of these cells. Stem Cell Reports 2, 52-63 (2013).
*also used Titanium Taq

抗原分型

常规的

Hosomichi K. et.al. Phase-defined complete sequencing of the HLA genes by next-generation sequencing. BMC Genomics 28,355 (2013).

Hosomichi, K., Shiina, T., Tajima, A. & Inoue, I. The impact of next-generation sequencing technologies on HLA research. J. Hum. Genet. 60, 665-73 (2015).

Mayor, N. P. et al. HLA typing for the next generation. PLoS One 10, (2015).

Shiina, T. et al. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. Genetics 173, 1555-1570 (2006).

高通量应用

Ehrenberg, P. K. et al. High-throughput multiplex HLA genotyping by next-generation sequencing using multi-locus individual tagging. BMC Genomics 15, 864 (2014).

Ozaki, Y., et al. HLA-DRB1, -DRB3, -DRB4 and -DRB5 genotyping at a super-high resolution level by long range PCR and high-throughput sequencing. Tissue Antigens 83, 10-16 (2014).

Amplicon制备在NGS中的使用例

· 使用PrimeSTAR GXL DNA Polymerase从PKD1和PKD2区域制备2.3-10.8 kb的Amplicon。使用Miseq解析常染色体显性多发性囊胞肾突变原因。

Tan, Adrian Y., et al. (2014). Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. The Journal of Molecular Diagnostics, 16(2), 216-228.

· 使用PrimeSTAR GXL DNA Polymerase扩增包含CAG的3个碱基重复排列的1.5 kb片段，用于文库制备。使用PacBio进行long-read sequencing解析。

Liu, Qian, et al. (2017). Interrogating the“unsequenceable”genomic trinucleotide repeat disorders by long-read sequencing. Genome medicine, 9(1), 65.

· 使用PrimeSTAR GXL DNA Polymerase扩增Neuronal mtDNA(线粒体DNA)的9 kb特定区域，用HiSeq 2500进行深度测序（deep sequencing），可以高灵敏度地检测出了mtDNA的缺失。

Nido, Gonzalo S., et al. (2018). Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease. Neurobiology of aging, 63, 120-127.

· 使用PrimeSTAR GXL DNA Polymerase和TaKaRa LA Taq对HLA class I区域的全长及HLA class II的特定区域进行扩增，通过PacBio确定序列，进行了HLA分型。

Turner, Thomas R., et al. (2017). Single molecule real‐time DNA sequencing of HLA genes at ultra‐high resolution from 126 International HLA and Immunogenetics Workshop cell lines. HLA.

· 使用PrimeSTAR GXL DNA Polymerase对Red-Eared Slider Turtle(密西西比亚龟)的Aromatase基因区域进行巢式PCR(25 kb→9 kb、10 kb、10 kb三片段)。用三片段制备文库，通过Miseq确定序列。

Matsumoto, Yuiko, and David Crews. (2017). Genetic Polymorphisms in Aromatase (cyp19a1) Are Not Associated with Gonadal Phenotypes in Red-Eared Slider Turtle Hatchlings Developed at a Pivotal Temperature. Sexual Development, 11(3), 151-160.