Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

Cosemans Nele, Claes Peter, Brison Nathalie, Vermeesch Joris Robert and Peeters Hilde ()
Additional contact information
Cosemans Nele: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Claes Peter: Medical Image Computing, ESAT/PSI, Department of Electrical Engineering, KU Leuven, Leuven, Belgium
Brison Nathalie: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Vermeesch Joris Robert: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Peeters Hilde: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium

Statistical Applications in Genetics and Molecular Biology, 2018, vol. 17, issue 2, 11

Abstract: Arrays based on single nucleotide polymorphisms (SNPs) have been successful for the large scale discovery of copy number variants (CNVs). However, current CNV calling algorithms still have limitations in detecting CNVs with high specificity and sensitivity, especially in case of small (

Keywords: CNV call; copy number variant; local noise estimation; log R ratio; SNP array (search for similar items in EconPapers)
Date: 2018
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://doi.org/10.1515/sagmb-2017-0026 (text/html)
For access to full text, subscription to the journal or payment for the individual article is required.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:bpj:sagmbi:v:17:y:2018:i:2:p:11:n:2

Ordering information: This journal article can be ordered from
https://www.degruyter.com/journal/key/sagmb/html

DOI: 10.1515/sagmb-2017-0026

Access Statistics for this article

Statistical Applications in Genetics and Molecular Biology is currently edited by Michael P. H. Stumpf

More articles in Statistical Applications in Genetics and Molecular Biology from De Gruyter
Bibliographic data for series maintained by Peter Golla ().