| 靶向重測(cè)序 |
| 癌癥| Illumina測(cè)序 |
| Sakaguchi, H., et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nature Genetics 45, 937-941 (2013). |
| 法醫(yī)學(xué)|環(huán)境微生物學(xué) |
| 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). |
| 免疫學(xué) |
| 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). |
| 病原體 |
| 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). |
| 干細(xì)胞| Illumina測(cè)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 |
| 常規(guī)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). |
| 高通量應(yīng)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制備在NGS中的使用例 |
| · 使用PrimeSTAR GXL DNA Polymerase從PKD1和PKD2區(qū)域制備2.3-10.8 kb的Amplicon。使用Miseq解析常染色體顯性多發(fā)性囊胞腎突變?cè)颉?br /> |
| 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擴(kuò)增包含CAG的3個(gè)堿基重復(fù)排列的1.5 kb片段，用于文庫(kù)制備。使用PacBio進(jìn)行l(wèi)ong-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擴(kuò)增Neuronal mtDNA(線粒體DNA)的9 kb特定區(qū)域，用HiSeq 2500進(jìn)行深度測(cè)序（deep sequencing），可以高靈敏度地檢測(cè)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對(duì)HLA class I區(qū)域的全長(zhǎng)及HLA class II的特定區(qū)域進(jìn)行擴(kuò)增，通過(guò)PacBio確定序列，進(jìn)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對(duì)Red-Eared Slider Turtle(密西西比亞龜)的Aromatase基因區(qū)域進(jìn)行巢式PCR(25 kb→9 kb、10 kb、10 kb三片段)。用三片段制備文庫(kù)，通過(guò)Miseq確定序列。 |
| 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. |
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