Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine
作者: Yaqiong JinGeng ChenWenming XiaoHuixiao HongJoshua XuYongli GuoWenzhong XiaoTieliu ShiLeming ShiWeida TongBaitang Ning
作者单位: 1Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health
2Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University
3National Center for Toxicological Research, U.S. Food and Drug Administration
4Department of Surgery, Massachusetts General Hospital, Harvard Medical School
5State Key Laboratory of Genetic Engineering, School of Life Sciences and Cancer Center; Collaborative Innovation Center for Genetics and Development, Fudan University
刊名: Science China Life Sciences, 2019, Vol.62 (7), pp.895-904
来源数据库: Springer Nature Journal
DOI: 10.1007/s11427-018-9479-5
关键词: Next generation sequencingPrecision medicineXenobiotic metabolizing enzymes and transportersToxicogenomicsPharmacogenomics
原始语种摘要: Abstract(#br)High-throughput next generation sequencing (NGS) is a shotgun approach applied in a parallel fashion by which the genome is fragmented and sequenced through small pieces and then analyzed either by aligning to a known reference genome or by de novo assembly without reference genome. This technology has led researchers to conduct an explosion of sequencing related projects in multidisciplinary fields of science. However, due to the limitations of sequencing-based chemistry, length of sequencing reads and the complexity of genes, it is difficult to determine the sequences of some portions of the human genome, leaving gaps in genomic data that frustrate further analysis. Particularly, some complex genes are difficult to be accurately sequenced or mapped because they contain high...
全文获取路径: Springer Nature  (合作)
影响因子:2.024 (2011)