Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Background: As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or obscured by under-powered data collection. Ma...

Full description

Bibliographic Details
Main Authors: Berg, J.S (Author), Bizon, C. (Author), Bost, D.M (Author), Brandt, A.T (Author), Filer, D.L (Author), Jeffries, C.D (Author), Kuo, F. (Author), Li, Y. (Author), Mieczkowski, P.A (Author), Powell, B.C (Author), Robasky, K. (Author), Tilley, C.R (Author), Tilson, J.L (Author), Wilhelmsen, K.C (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Agnostic
algorithm
Algorithms
article
Bayes theorem
Bayes Theorem
Bayesian approaches
Bayesian networks
Capture
Clinical practices
copy number variation
Copy number variation
Copy number variations
detection algorithm
Detection algorithm
DNA Copy Number Variations
exome
Exome
Exome sequencing
false discovery rate
False discovery rate
genetics
Genome sequencing
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
Prior information
simulation
Simulation studies
whole exome sequencing
Whole Exome Sequencing
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items