CAJ | 학술논문

拷贝数变异（copy number variation, CNV）是基因组结构变异中的一个重要类型，它在人类很多复杂疾病的发生和发展过程中扮演着重要角色。当前CNV的识别研究，主要集中在单一样本相对于参考序列的CNV识别，以及针对成对样本的CNV识别。然而，这种单纯基于个体水平的CNV分析，只能局限于个体之间而无法进行亲本到子代的遗传学分析。本文基于千人基因组计划中三样本父-母-子代的家系数据，寻找子代相对于父、母的变异区域，不仅识别出子女继承自父母的CNV，并通过分层聚类分析推断出这些CNV的生成方式，同时还检测出少量疑似子代相对于父母的纯合CNV变异。
고패수변이（copy number variation, CNV）시기인조결구변이중적일개중요류형，타재인류흔다복잡질병적발생화발전과정중분연착중요각색。당전CNV적식별연구，주요집중재단일양본상대우삼고서렬적CNV식별，이급침대성대양본적CNV식별。연이，저충단순기우개체수평적CNV분석，지능국한우개체지간이무법진행친본도자대적유전학분석。본문기우천인기인조계화중삼양본부-모-자대적가계수거，심조자대상대우부、모적변이구역，불부식별출자녀계승자부모적CNV，병통과분층취류분석추단출저사CNV적생성방식，동시환검측출소량의사자대상대우부모적순합CNV변이。
Copy number variation (CNV) is an important type of genomic structural variation and plays a crucial role in genomic disorders imposed by diseases. Most of the current bioinformatic researches focus on developing algorithms and tools for detecting CNVs from single or paired datasets, but the analysis of such CNVs is not sufficient from a family-based genetic point of view. We performed a trio-sample family based parents-offspring CNV analysis using the 1000G data. We found a number of CNVs that the offsprings inherited from their parents and inferred through hierarchical analysis how they were generated. In addition, we also discovered several de novo CNV candidates.