Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z ‐scores improves detection and reliability-Reference-Cited by-同舟云学术

Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z ‐scores improves detection and reliability

Published:2020-10-05 Issue:3 Volume:45 Page:237-248
ISSN:0741-0395
Container-title:Genetic Epidemiology
language:en
Short-container-title:Genetic Epidemiology

Author:

Dennis Joe¹^ORCID,Walker Logan²^ORCID,Tyrer Jonathan³,Michailidou Kyriaki¹⁴⁵^ORCID,Easton Douglas F.¹

Affiliation:

1. Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology University of Cambridge Cambridge UK

2. Department of Pathology and Biomedical Science University of Otago Christchurch New Zealand

3. Department of Oncology, Centre for Cancer Genetic Epidemiology University of Cambridge Cambridge UK

4. Biostatistics Unit The Cyprus Institute of Neurology and Genetics Nicosia Cyprus

5. Cyprus School of Molecular Medicine Nicosia Cyprus

Funder

Cancer Research UK

National Institutes of Health

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics(clinical),Epidemiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/gepi.22367

Reference23 articles.

1. The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

2. A robust statistical method for case-control association testing with copy number variation

3. cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs

4. Cooper N. J.BigPCA package.https://cran.r-project.org/web/packages/bigpca/index.html

5. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Single-Nucleotide Polymorphism (SNP) array: an array of hope for genetic improvement of aquatic species and fisheries management;Blue Biotechnology;2024-08-16

2. On the core segmentation algorithms of copy number variation detection tools;Briefings in Bioinformatics;2024-01-22

3. Epitope Mapping of BmpA and BBK32 Borrelia burgdorferi Sensu Stricto Antigens for the Design of Chimeric Proteins with Potential Diagnostic Value;ACS Infectious Diseases;2023-10-07

4. Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients;Cancers;2022-12-14

5. Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci;JNCI: Journal of the National Cancer Institute;2022-10-10