Structural variation in the human genome
Nature Reviews Genetics volume 7, pages 85-97 (2006)
介绍变异的类型:简书:Structural variation in the human genome
Structural Variation in the Human Genome and its Role in Disease
Annual Review of Medicine volume 61, page 437-455(2010)
介绍CNVs的起源和临床结局:简书:Structural Variation in the Human Genome and its Role in Disease
Genome structural variation discovery and genotyping
Nature Reviews Genetics volume 12, pages 363-376 (2011)
介绍SV的检测方法和面临的挑战:简书:Genome structural variation discovery and genotyping
Lessons from the Cancer Genome
Cell volume 153, page 17-37 (2013)
介绍肿瘤发生的遗传因素:简书:Lessons from the Cancer Genome
Phenotypic impact of genomic structural variation: insights from and for human disease
Nature Reviews Genetics volume 14, pages 125-138 (2013)
介绍SV与疾病表型关联的进展,功能学研究的进展和局限:简书:Phenotypic impact of genomic structural variation: insights from and for human disease
Expanding the computational toolbox for mining cancer genomes
Nature Reviews Genetics volume 15, pages 556–570 (2014)
介绍肿瘤遗传数据分析工具:简书:Expanding the computational toolbox for mining cancer genomes
Whole genomes redefine the mutational landscape of pancreatic cancer
Nature volume 518, pages 495-501 (2015)
介绍胰腺癌的突变谱,强调SV的作用,胰腺癌分为4类,突变与药物治疗:简书:Whole genomes redefine the mutational landscape of pancreatic cancer
The emerging complexity of gene fusions in cancer
Nature Reviews Cancer volume 15, pages 371–381 (2015)
介绍基因融合的检测方式、目前已知的融合基因情况、致病机制和临床应用:简书:The emerging complexity of gene fusions in cancer
Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer
Nature Genetics volume 48, pages 500–509 (2016)
介绍日本肝癌测序结果Sinature、结构变异、突变富集、recurrent突变富集、SV与复制时间关系等:简书:Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer
Implementing Genome-Driven Oncology
Cell volume 168, page 584-599 (2017)
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