Characterization of CNVs at base-pair level reveals the frequent occurrence of micro-mutations withi

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户：zxing515

【摘要】

：

　　Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease.However, a large fraction of these CNVs have not bee

【作者】

：

王晔;

【机构】

：

中山大学中山医学院医学遗传学教研室

【出处】

：

第十四次全国医学遗传学学术会议

【发表日期】

：

2015年期

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　　Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease.However, a large fraction of these CNVs have not been accurately characterized at the single-base-pair level, thereby hampering a better understanding of the mutational mechanisms underlying CNV formation.

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