Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation

JP Szatkiewicz, WB Wang, PF Sullivan… - Nucleic acids …, 2013 - academic.oup.com
Structural variation is an important class of genetic variation in mammals. High-throughput
sequencing (HTS) technologies promise to revolutionize copy-number variation (CNV) …

A survey of copy‐number variation detection tools based on high‐throughput sequencing data

R Xi, S Lee, PJ Park - Current protocols in human genetics, 2012 - Wiley Online Library
Copy‐number variation (CNV) is a major class of genomic variation with potentially
important functional consequences in both normal and diseased populations. Remarkable …

Detecting copy number variation with mated short reads

P Medvedev, M Fiume, M Dzamba, T Smith… - Genome …, 2010 - genome.cshlp.org
The development of high-throughput sequencing (HTS) technologies has opened the door
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …

Statistical challenges associated with detecting copy number variations with next-generation sequencing

SM Teo, Y Pawitan, CS Ku, KS Chia, A Salim - Bioinformatics, 2012 - academic.oup.com
Motivation: Analysing next-generation sequencing (NGS) data for copy number variations
(CNVs) detection is a relatively new and challenging field, with no accepted standard …

[HTML][HTML] cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data

E Bellos, MR Johnson, LJ M Coin - Genome biology, 2012 - Springer
Recent advances in sequencing technologies provide the means for identifying copy
number variation (CNV) at an unprecedented resolution. A single next-generation …

CNVeM: copy number variation detection using uncertainty of read mapping

Z Wang, F Hormozdiari, WY Yang… - Journal of …, 2013 - liebertpub.com
Copy number variations (CNVs) are widely known to be an important mediator for diseases
and traits. The development of high-throughput sequencing (HTS) technologies has …

[HTML][HTML] A computational method for detecting copy number variations using scale-space filtering

J Lee, U Lee, B Kim, J Yoon - BMC bioinformatics, 2013 - Springer
Background As next-generation sequencing technology made rapid and cost-effective
sequencing available, the importance of computational approaches in finding and analyzing …

[HTML][HTML] CNV-TV: A robust method to discover copy number variation from short sequencing reads

J Duan, JG Zhang, HW Deng, YP Wang - BMC bioinformatics, 2013 - Springer
Background Copy number variation (CNV) is an important structural variation (SV) in human
genome. Various studies have shown that CNVs are associated with complex diseases …

PEcnv: accurate and efficient detection of copy number variations of various lengths

X Wang, Y Xu, R Liu, X Lai, Y Liu, S Wang… - Briefings in …, 2022 - academic.oup.com
Copy number variation (CNV) is a class of key biomarkers in many complex traits and
diseases. Detecting CNV from sequencing data is a substantial bioinformatics problem and …

[HTML][HTML] CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths

YC Wei, GH Huang - Scientific reports, 2020 - nature.com
Copy number variations (CNVs) are genomic structural mutations consisting of abnormal
numbers of fragment copies. Next-generation sequencing of read-depth signals mirrors …