Sensitive and accurate detection of copy number variants using read depth of coverage
Methods for the direct detection of copy number variation (CNV) genome-wide have become
effective instruments for identifying genetic risk factors for disease. The application of next …
effective instruments for identifying genetic risk factors for disease. The application of next …
Free-access copy-number variant detection tools for targeted next-generation sequencing data
I Roca, L González-Castro, H Fernández… - … Research/Reviews in …, 2019 - Elsevier
Copy number variants (CNVs) are intermediate-scale structural variants containing copy
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
[HTML][HTML] Comparative studies of copy number variation detection methods for next-generation sequencing technologies
Copy number variation (CNV) has played an important role in studies of susceptibility or
resistance to complex diseases. Traditional methods such as fluorescence in situ …
resistance to complex diseases. Traditional methods such as fluorescence in situ …
An evaluation of copy number variation detection tools from whole‐exome sequencing data
Copy number variation (CNV) has been found to play an important role in human disease.
Next‐generation sequencing technology, including whole‐genome sequencing (WGS) and …
Next‐generation sequencing technology, including whole‐genome sequencing (WGS) and …
[HTML][HTML] Detecting copy number variation in next generation sequencing data from diagnostic gene panels
AK Singh, MF Olsen, LAS Lavik, T Vold, F Drabløs… - BMC Medical …, 2021 - Springer
Background Detection of copy number variation (CNV) in genes associated with disease is
important in genetic diagnostics, and next generation sequencing (NGS) technology …
important in genetic diagnostics, and next generation sequencing (NGS) technology …
[HTML][HTML] CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing
High-throughput DNA sequencing enables detection of copy number variations (CNVs) on
the genome-wide scale with finer resolution compared to array-based methods but suffers …
the genome-wide scale with finer resolution compared to array-based methods but suffers …
Detecting copy number variation with mated short reads
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 …
to novel methods for detecting copy number variants (CNVs) in the human genome. While in …
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
Copy number variation (CNV) in the genome is a complex phenomenon, and not completely
understood. We have developed a method, CNVnator, for CNV discovery and genotyping …
understood. We have developed a method, CNVnator, for CNV discovery and genotyping …
panelcn. MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
G Povysil, A Tzika, J Vogt, V Haunschmid… - Human …, 2017 - Wiley Online Library
Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger
sequencing in clinical diagnostics. They allow for the detection of copy‐number variations …
sequencing in clinical diagnostics. They allow for the detection of copy‐number variations …
[HTML][HTML] Validation of copy number variation analysis for next-generation sequencing diagnostics
JM Ellingford, C Campbell, S Barton… - European Journal of …, 2017 - nature.com
Although a common cause of disease, copy number variants (CNVs) have not routinely
been identified from next-generation sequencing (NGS) data in a clinical context. This study …
been identified from next-generation sequencing (NGS) data in a clinical context. This study …