Journal of Southern Medical University ›› 2015, Vol. 35 ›› Issue (06): 777-.
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Abstract: Copy number variation (CNV) is an important type of genomic structural variation and plays a crucial role ingenomic disorders imposed by diseases. Most of the current bioinformatic researches focus on developing algorithms andtools for detecting CNVs from single or paired datasets, but the analysis of such CNVs is not sufficient from a family-basedgenetic point of view. We performed a trio-sample family based parents-offspring CNV analysis using the 1000G data. Wefound a number of CNVs that the offsprings inherited from their parents and inferred through hierarchical analysis how theywere generated. In addition, we also discovered several de novo CNV candidates.
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https://www.j-smu.com/EN/Y2015/V35/I06/777