[1]
|
Ashley, E.A. (2016) Towards Precision Medicine. Nature Reviews Genetics, 17, 507-522. https://doi.org/10.1038/nrg.2016.86
|
[2]
|
Berger, B. and Yu, Y.W. (2023) Navigating Bottlenecks and Trade-Offs in Genomic Data Analysis. Nature Reviews Genetics, 24, 235-250. https://doi.org/10.1038/s41576-022-00551-z
|
[3]
|
常凯, 刘晨霞, 许宏宣, 等. 基因测序在精准医疗中的发展与应用概述[J]. 西南军医, 2021, 23(2): 146-148.
|
[4]
|
Tong, H., Phan, N.V.T., Nguyen, T.T., et al. (2021) Review on Databases and Bioinformatic Approaches on Pharmacogenomics of Adverse Drug Reactions. Pharmacogenomics and Personalized Medicine, 14, 61-75. https://doi.org/10.2147/PGPM.S290781
|
[5]
|
Zhao, M., Ma, J., Li, M., et al. (2021) Cytochrome P450 Enzymes and Drug Metabolism in Humans. International Journal of Molecular Sciences, 22, Article No. 12808. https://doi.org/10.3390/ijms222312808
|
[6]
|
Rehm, H.L. (2013) Disease-Targeted Sequencing: A Cornerstone in the Clinic. Nature Reviews Genetics, 14, 295-300. https://doi.org/10.1038/nrg3463
|
[7]
|
Pei, X.M., Yeung, M.H.Y., Wong, A.N.N., et al. (2023) Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases. Cells, 12, Article No. 493. https://doi.org/10.3390/cells12030493
|
[8]
|
Beadling, C., Neff, T.L., Heinrich, M.C., et al. (2013) Combining Highly Multiplexed PCR with Semiconductor-Based Sequencing for Rapid Cancer Genotyping. The Journal of Molecular Diagnostics, 15, 171-176. https://doi.org/10.1016/j.jmoldx.2012.09.003
|
[9]
|
Tewhey, R., Warner, J.B., Nakano, M., et al. (2009) Microdroplet-Based PCR Enrichment for Large-Scale Targeted Sequencing. Nature Biotechnology, 27, 1025-1031. https://doi.org/10.1038/nbt.1583
|
[10]
|
Hedges, D.J., Guettouche, T., Yang, S., et al. (2011) Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform. PLOS ONE, 6, E18595. https://doi.org/10.1371/journal.pone.0018595
|
[11]
|
Albert, T.J., Molla, M.N., Muzny, D.M., et al. (2007) Direct Selection of Human Genomic Loci by Microarray Hybridization. Nature Methods, 4, 903-905. https://doi.org/10.1038/nmeth1111
|
[12]
|
Hodges, E., Xuan, Z., Balija, V., et al. (2007) Genome-Wide in Situ Exon Capture for Selective Resequencing. Nature Genetics, 39, 1522-1527. https://doi.org/10.1038/ng.2007.42
|
[13]
|
Pruitt, K.D., Brown, G.R., Hiatt, S.M., et al. (2014) RefSeq: An Update on Mammalian Reference Sequences. Nucleic Acids Research, 42, D756-D763.
|
[14]
|
Dahl, F., Stenberg, J., Fredriksson, S., et al. (2007) Multigene Amplification and Massively Parallel Sequencing for Cancer Mutation Discovery. Proceedings of the National Academy of Sciences of the United States of America, 104, 9387-9392. https://doi.org/10.1073/pnas.0702165104
|
[15]
|
Shen, P., Wang, W., Chi, A.K., et al. (2013) Multiplex Target Capture with Double-Stranded DNA Probes. Genome Medicine, 5, Article No. 50. https://doi.org/10.1186/gm454
|
[16]
|
Hardenbol, P., Yu, F., Belmont, J., et al. (2005) Highly Multiplexed Molecular Inversion Probe Genotyping: Over 10,000 Targeted SNPs Genotyped in a Single Tube Assay. Genome Research, 15, 269-275. https://doi.org/10.1101/gr.3185605
|
[17]
|
Turner, E.H., Lee, C., Ng, S.B., et al. (2009) Massively Parallel Exon Capture and Library-Free Resequencing across 16 Genomes. Nature Methods, 6, 315-316. https://doi.org/10.1038/nmeth.f.248
|
[18]
|
Mamanova, L., Coffey, A.J., Scott, C.E., et al. (2010) Target-Enrichment Strategies for Next-Generation Sequencing. Nature Methods, 7, 111-118. https://doi.org/10.1038/nmeth.1419
|
[19]
|
Frampton, G.M., Fichtenholtz, A., Otto, G.A., et al. (2013) Development and Validation of a Clinical Cancer Genomic Profiling Test Based on Massively Parallel DNA Sequencing. Nature Biotechnology, 31, 1023-1031. https://doi.org/10.1038/nbt.2696
|
[20]
|
Cheng, D.T., Mitchell, T.N., Zehir, A., et al. (2015) Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology. The Journal of Molecular Diagnostics, 17, 251-264. https://doi.org/10.1016/j.jmoldx.2014.12.006
|
[21]
|
Shi, Z., Lopez, J., Kalliney, W., et al. (2022) Development and Evaluation of ActSeq: A Targeted Next-Generation Sequencing Panel for Clinical Oncology Use. PLOS ONE, 17, E0266914. https://doi.org/10.1371/journal.pone.0266914
|
[22]
|
Xie, C., Zhong, L., Luo, J., et al. (2023) Identification of Mutation Gene Prognostic Biomarker in Multiple Myeloma Through Gene Panel Exome Sequencing and Transcriptome Analysis in Chinese Population. Computers in Biology and Medicine, 163, Article ID: 107224. https://doi.org/10.1016/j.compbiomed.2023.107224
|
[23]
|
Yatabe, Y., Sunami, K., Goto, K., et al. (2020) Multiplex Gene-Panel Testing for Lung Cancer Patients. Pathology International, 70, 921-931. https://doi.org/10.1111/pin.13023
|
[24]
|
程亚楠, 于津浦. 肿瘤大基因包高通量测序在临床中的应用进展[J]. 中国肿瘤临床, 2019, 46(2): 94-98.
|
[25]
|
Liu, L., Li, K., Fu, X., et al. (2016) A Forward Look at Noninvasive Prenatal Testing. Trends in Molecular Medicine, 22, 958-968. https://doi.org/10.1016/j.molmed.2016.09.008
|
[26]
|
Rafati, M., Mohamadhashem, F., Jalilian, K., et al. (2022) Identification of a Novel De Novo Variant in OTX2 in a Patient with Congenital Microphthalmia Using Targeted Next-Generation Sequencing Followed by Prenatal Diagnosis. Ophthalmic Genetics, 43, 262-267. https://doi.org/10.1080/13816810.2021.2002915
|
[27]
|
Zhang, J., Li, J., Saucier, J.B., et al. (2019) Non-Invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-Free Fetal DNA. Nature Medicine, 25, 439-447.
|
[28]
|
Mohan, P., Lemoine, J., Trotter, C., et al. (2022) Clinical Experience with Non-Invasive Prenatal Screening for Single-Gene Disorders. Ultrasound in Obstetrics & Gynecology, 59, 33-39. https://doi.org/10.1002/uog.23756
|
[29]
|
Rather, R.A. and Saha, S.C. (2023) Reappraisal of Evolving Methods in Non-Invasive Prenatal Screening: Discovery, Biology and Clinical Utility. Heliyon, 9, e13923. https://doi.org/10.1016/j.heliyon.2023.e13923
|
[30]
|
Yohe, S. and Thyagarajan, B. (2017) Review of Clinical Next-Generation Sequencing. Archives of Pathology & Laboratory Medicine, 141, 1544-1557. https://doi.org/10.5858/arpa.2016-0501-RA
|
[31]
|
Kermode, W., De Santis, D., Truong, L., et al. (2022) A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study. The Journal of Molecular Diagnostics, 24, 586-599. https://doi.org/10.1016/j.jmoldx.2022.02.007
|
[32]
|
Huang, X., Wu, D., Zhu, L., et al. (2022) Application of a Next-Generation Sequencing (NGS) Panel in Newborn Screening Efficiently Identifies Inborn Disorders of Neonates. Orphanet Journal of Rare Diseases, 17, Article No. 66. https://doi.org/10.1186/s13023-022-02231-x
|
[33]
|
Wang, H., Yang, H., Liu, Z., et al. (2020) Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia. Journal of Atherosclerosis and Thrombosis, 27, 1288-1298. https://doi.org/10.5551/jat.54593
|
[34]
|
Leber, A.L., Everhart, K., Daly, J.A., et al. (2018) Multicenter Evaluation of BioFire FilmArray Respiratory Panel 2 for Detection of Viruses and Bacteria in Nasopharyngeal Swab Samples. Journal of Clinical Microbiology, 56, 1110-1128. https://doi.org/10.1128/JCM.01945-17
|
[35]
|
Hernandez-Neuta, I., Magoulopoulou, A., Pineiro, F., et al. (2023) Highly Multiplexed Targeted Sequencing Strategy for Infectious Disease Surveillance. BMC Biotechnology, 23, Article No. 31. https://doi.org/10.1186/s12896-023-00804-7
|
[36]
|
Park, D.G., Ha, E.S., Kang, B., et al. (2023) Development and Evaluation of A Next-Generation Sequencing Panel for the Multiple Detection and Identification of Pathogens in Fermented Foods. Journal of Microbiology and Biotechnology, 33, 83-95. https://doi.org/10.4014/jmb.2211.11009
|
[37]
|
Park, D.G., Kwon, J.G., Ha, E.S., et al. (2023) Novel Next Generation Sequencing Panel Method for the Multiple Detection and Identification of Foodborne Pathogens in Agricultural Wastewater. Frontiers in Microbiology, 14, Article ID: 1179934. https://doi.org/10.3389/fmicb.2023.1179934
|
[38]
|
Gordon, A.S., Fulton, R.S., Qin, X., et al. (2016) PGRNseq: A Targeted Capture Sequencing Panel for Pharmacogenetic Research and Implementation. Pharmacogenet Genomics, 26, 161-168. https://doi.org/10.1097/FPC.0000000000000202
|
[39]
|
Lee, S.B., Shin, J.Y., Kwon, N.J., et al. (2022) ClinPharmSeq: A Targeted Sequencing Panel for Clinical Pharmacogenetics Implementation. PLOS ONE, 17, e0272129. https://doi.org/10.1371/journal.pone.0272129
|
[40]
|
Fukunaga, K., Momozawa, Y. and Mushiroda, T. (2021) Update on Next Generation Sequencing of Pharmacokinetics-Related Genes: Development of the PKseq Panel, a Platform for Amplicon Sequencing of Drug-Metabolizing Enzyme and Drug Transporter Genes. Drug Metabolism and Pharmacokinetics, 37, Article ID: 100370. https://doi.org/10.1016/j.dmpk.2020.11.005
|
[41]
|
Wu, S.H., Xiao, Y.X., Hsiao, H.C., et al. (2022) Development and Assessment of a Novel Whole-Gene-Based Targeted Next-Generation Sequencing Assay for Detecting the Susceptibility of Mycobacterium Tuberculosis to 14 Drugs. Microbiology Spectrum, 10, e0260522. https://doi.org/10.1128/spectrum.02605-22
|
[42]
|
Yu, L. (2023) Artificial Intelligence in Molecular Medicine. The New England Journal of Medicine, 389, 1251-1252. https://doi.org/10.1056/NEJMc2308776
|
[43]
|
You, Y., Lai, X., Pan, Y., et al. (2022) Artificial Intelligence in Cancer Target Identification and Drug Discovery. Signal Transduction and Targeted Therapy, 7, Article No. 156. https://doi.org/10.1038/s41392-022-00994-0
|
[44]
|
Fusaro, M., Rosain, J., Grandin, V., et al. (2021) Improving the Diagnostic Efficiency of Primary Immunodeficiencies with Targeted Next-Generation Sequencing. Journal of Allergy and Clinical Immunology, 147, 734-737. https://doi.org/10.1016/j.jaci.2020.05.046
|
[45]
|
Lei, Y., Tang, R., Xu, J., et al. (2021) Applications of Single-Cell Sequencing in Cancer Research: Progress and Perspectives. Journal of Hematology & Oncology, 14, Article No. 91. https://doi.org/10.1186/s13045-021-01105-2
|
[46]
|
Langsiri, N., Worasilchai, N., Irinyi, L., et al. (2023) Targeted Sequencing Analysis Pipeline for Species Identification of Human Pathogenic Fungi Using Long-Read Nanopore Sequencing. IMA Fungus, 14, Article No. 18. https://doi.org/10.1186/s43008-023-00125-6
|