1 拷贝数变异 (copy number variation,CNV)2 Genome-wide association studies: potential next steps on a genetic journey. Mark I. McCarthy. Hum. Mol. Genet. 2008, 17(2): 156 165. 基于SNP的GWAS只能解释 疾病一小部分的遗传变异 Extending genome-wide association studies to copy-number variation. McCarroll, S.A. Hum. Mol. Genet. 2008, 17(2):135-142. 更完善的GWAS 拷贝数变异CNV3 提纲 n CNV由来 n CNV相关概念 n CNV分类 n CNV数据库 n CNV遗传学特点 n CNV形成及影响机制 n CNV检测方法 n CNV 459(7249): 987 991. 3）miRNA研究 n Frequent deletions and down-regulation of miRNA gene
