Progress in methods for copy number variation profiling
Copy number variations (CNVs) are the predominant class of structural genomic variations
involved in the processes of evolutionary adaptation, genomic disorders, and disease …
involved in the processes of evolutionary adaptation, genomic disorders, and disease …
Robust Distance Measures for kNN Classification of Cancer Data
R Ehsani, F Drabløs - Cancer informatics, 2020 - journals.sagepub.com
The k-Nearest Neighbor (k NN) classifier represents a simple and very general approach to
classification. Still, the performance of k NN classifiers can often compete with more complex …
classification. Still, the performance of k NN classifiers can often compete with more complex …
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Homozygous duplications contribute to genetic disease by altering gene dosage or
disrupting gene regulation and can be more deleterious to organismal biology than …
disrupting gene regulation and can be more deleterious to organismal biology than …
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
O Quenez, K Cassinari, S Coutant… - European Journal of …, 2021 - nature.com
The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-
based or targeted techniques are still commonly used. We assessed the performances of a …
based or targeted techniques are still commonly used. We assessed the performances of a …
Unsupervised saliency detection via knn mechanism and object-biased prior
X Zhou, Z Ren, S Zhou, T Yu, Z Jiang - Neural Processing Letters, 2023 - Springer
In recent years, some researchers have put forth the compactness hypothesis, which
suggests that similar colours tend to accumulate in the salient region as opposed to the non …
suggests that similar colours tend to accumulate in the salient region as opposed to the non …
Evaluation platform for ddm algorithms with the usage of non-uniform data distribution strategies
M Markiewicz, J Koperwas - International Journal of Information …, 2022 - igi-global.com
Huge amounts of data are collected in numerous independent data storage facilities around
the world. However, how the data is distributed between physical locations remains …
the world. However, how the data is distributed between physical locations remains …
Comprehensive classification assessment of GNSS observation data quality by fusing k-means and KNN algorithms
M Li, G Huang, L Wang, W Xie - GPS Solutions, 2024 - Springer
The observation data is the basis for the global navigation satellite system (GNSS) to
provide positioning, navigation and timing (PNT) service, and the observation quality directly …
provide positioning, navigation and timing (PNT) service, and the observation quality directly …
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
B Bigio, Y Seeleuthner, G Kerner… - NAR genomics and …, 2021 - academic.oup.com
The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is
important, as CNVs may underlie a number of human genetic disorders. The recently …
important, as CNVs may underlie a number of human genetic disorders. The recently …
CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage
W Kuśmirek, R Nowak - BMC bioinformatics, 2022 - Springer
Abstract Background A typical Copy Number Variations (CNVs) detection process based on
the depth of coverage in the Whole Exome Sequencing (WES) data consists of several …
the depth of coverage in the Whole Exome Sequencing (WES) data consists of several …
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma
M Fontanilles, F Marguet, P Ruminy, C Basset… - Acta Neuropathologica …, 2020 - Springer
Epidermal growth factor receptor (EGFR) amplification and EGFR variant III (EGFRvIII,
deletion of exons 2–7) are of clinical interest for glioblastoma. The aim was to develop a …
deletion of exons 2–7) are of clinical interest for glioblastoma. The aim was to develop a …