Combinatorial approach to estimate copy number genotype using whole-exome sequencing data

Hwang Mi Yeong; Moon Sanghoon; Heo Lyong; Kim Young Jin; Oh Ji Hee; Kim Yeon-Jung; Kim Yun Kyoung; Lee Juyoung; Han Bok-Ghee; Kim Bong-Jo

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Combinatorial approach to estimate copy number genotype using whole-exome sequencing data

机译：使用全外显子组测序数据估算拷贝数基因型的组合方法

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摘要

Copy number variations (CNVs) are known risk factors in complex diseases. Array-based approaches have been widely used to detect CNVs, but limitations of array-based CNV detection methods, such as noisy signal and low resolution, have hindered detection of small CNVs.

机译：拷贝数变异（CNV）是复杂疾病中已知的危险因素。基于阵列的方法已被广泛用于检测CNV，但是基于阵列的CNV检测方法的局限性（如噪声信号和低分辨率）阻碍了小型CNV的检测。

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《Genomics》 |2015年第3期|共5页
作者
Hwang Mi Yeong; Moon Sanghoon; Heo Lyong; Kim Young Jin; Oh Ji Hee; Kim Yeon-Jung; Kim Yun Kyoung; Lee Juyoung; Han Bok-Ghee; Kim Bong-Jo;
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正文语种 eng
中图分类医学遗传学;
关键词
Copy number variation; Whole-exome sequencing; CNV discovery; Combinatorial approach; CNV genotyping;

机译：拷贝数变异;全外显子测序;CNV发现;组合方法;CNV基因分型;

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专利

1. Combinatorial approach to estimate copy number genotype using whole-exome sequencing data [J] . Hwang Mi Yeong, Moon Sanghoon, Heo Lyong, Genomics . 2015,第3期

机译：使用全外显子组测序数据估算拷贝数基因型的组合方法
2. ERDS-Exome: A Hybrid Approach for Copy Number Variant Detection from Whole-Exome Sequencing Data [J] . Current Organic Synthesis . 2020,第3期

机译：Erds-Exome：从全外exome测序数据复制数变体检测的混合方法
3. Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach [J] . Miyatake Satoko, Koshimizu Eriko, Fujita Atsushi, Journal of human genetics . 2015,第4期

机译：使用eXome隐藏式马尔可夫模型检测全外显子测序数据中的拷贝数变异：“外显子优先”方法
4. ERDS-pe: A paired hidden Markov model for copy number variant detection from whole-exome sequencing data [C] . Renjie Tan, Jixuan Wang, Xiaoliang Wu, IEEE International Conference on Bioinformatics and Biomedicine . 2016

机译：ERDS-pe：配对的隐马尔可夫模型，用于从全外显子组测序数据中检测拷贝数变异
5. Mixture modeling of next generation sequencing data and its applications to genotyping and estimating genotype frequencies. [D] . Lihm, Jayon. 2013

机译：下一代测序数据的混合建模及其在基因分型和估计基因型频率中的应用。
6. Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data [O] . Hyung-Yong Kim, Jin-Woo Choi, Jeong-Yeon Lee, 2017

机译：使用全外显子组测序数据估算拷贝数变化的工具的基于基因的比较分析
7. Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth [O] . Fromer Menachem, Moran Jennifer L., Chambert Kimberly, 2012

机译：全外显子测序深度的拷贝数变异的发现和统计基因分型

Combinatorial approach to estimate copy number genotype using whole-exome sequencing data

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