An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data-Reference-Cited by-同舟云学术

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An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

Published:2014-05-01 Issue:7 Volume:35 Page:899-907
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tan Renjie¹²,Wang Yadong¹,Kleinstein Sarah E.²³,Liu Yongzhuang¹²,Zhu Xiaolin²,Guo Hongzhe¹²,Jiang Qinghua¹,Allen Andrew S.²⁴,Zhu Mingfu²⁵

Affiliation:

1. Center for Biomedical Informatics; School of Computer Science and Technology, Harbin Institute Technology; Harbin Heilongjiang China

2. Center for Human Genome Variation; Duke University School of Medicine; Durham North Carolina

3. Department of Molecular Genetics and Microbiology; Duke University School of Medicine; Durham North Carolina

4. Department of Biostatistics and Bioinformatics; Duke University; Durham North Carolina

5. Tute Genomics; Provo Utah

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22537/fullpdf

Reference47 articles.

1. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing;Abyzov;Genome Res,2011

2. Genome structural variation discovery and genotyping;Alkan;Nat Rev Genet,2011

3. Personalized copy number and segmental duplication maps using next-generation sequencing;Alkan;Nat Genet,2009

4. Ramachandran A Micsinai M Péer I. 2011 CONDEX : Copy number detection in exome sequences. Bioinformatics and Biomedicine Workshops (BIBMW), 2011 IEEE International Conference

5. Large, rare chromosomal deletions associated with severe early-onset obesity;Bochukova;Nature,2010

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1. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis;Scientific Reports;2024-08-26

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4. CNVbd: A Method for Copy Number Variation Detection and Boundary Search;Mathematics;2024-01-27

5. ECOLE: Learning to call copy number variants on whole exome sequencing data;Nature Communications;2024-01-02

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