Detection and analysis of copy number variation from 1000 Genomes trio data
- VernacularTitle:基于千人基因组谱系数据的拷贝数变异识别与分析
- Author:
Hui ZHAO
1
;
Fangqing ZHAO
Author Information
1. 计算基因组学研究组
- Keywords:
copy number variation;
read depth;
hierarchical clustering
- From:
Journal of Southern Medical University
2015;(6):777-782
- CountryChina
- Language:Chinese
-
Abstract:
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.
