Comprehensive characterization of copy number variation (CNV) called from array, long-and short-read data

K Lavrichenko, S Johansson, I Jonassen - BMC genomics, 2021 - Springer
… read genome sequencing are genome-wide high-throughput … We assembled an ensemble
of public datasets of published … that exceed the length of the reads in size [25]. Lastly, there is …

Genome-wide copy number variation detection using NGS: data analysis and interpretation

W Shen, P Szankasi, J Durtschi, TW Kelley… - Tumor Profiling: Methods …, 2019 - Springer
DNA microarray serves as the current gold standard method for detecting genome-wide CNVs
… This chapter describes a protocol for detecting genome-wide large somatic CNVs and CN-…

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease

S Frenkel, CN Bernstein, M Sargent, Q Kuang… - PLoS …, 2019 - journals.plos.org
… The human genes positions (accordingly to GRCh37/hg19 genome assembly) were … rare
genic CNVs detected by genome-wide high-resolution microarray technology in a cohort of 243 …

Evaluation of mitochondrial DNA copy number estimation techniques

RJ Longchamps, CA Castellani, SY Yang… - PloS one, 2020 - journals.plos.org
DNA copy number (mtDNA-CN), a measure of the number of … to the manufacturer’s instructions
for fewer than 5 x 10 6 cells… read counts and Affymetrix Genome-Wide Human SNP Array …

Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory

YH Lin, YJ Jong, PC Huang… - Acta Obstetricia et …, 2020 - Wiley Online Library
… out DNA copy number detection and genome-wide SNP genotyping on all 10 377 DNA
≥5 Mb in size were classified as karyotypic abnormalities, whereas aberrations ≤5 Mb in …

EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data

Z Zhang, H Cheng, X Hong, AF Di Narzo… - Nucleic acids …, 2019 - academic.oup.com
… promise for performing genome-wide CNV association … : initially locating CNVRs by
assembling CNV calls from multiple … measured as a fraction of the number of loci that differ in copy

Copy number variation: methods and clinical applications

O Pös, J Radvanszky, J Styk, Z Pös, G Buglyó… - Applied Sciences, 2021 - mdpi.com
copy numbers of sequences at least ~3–10 Mb in size [20]. … The aCGH provides genome-wide
coverage at a much higher … , but genome assembly is computationally more intensive and …

Critical evaluation of copy number variant calling methods using DNA methylation

V Kilaru, AK Knight, S Katrinli, D Cobb… - Genetic …, 2020 - Wiley Online Library
… ) was performed according to manufacturer's instructions. … Genome-wide SNP genotyping
was done using the Illumina … For evaluations of reliability, we focused on CNVs > 10 kb in size

Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing

H Masset, J Ding, E Dimitriadou… - Nucleic Acids …, 2022 - academic.oup.com
… Following DNA amplification, genomic size and complexity is reduced … ’s instructions with
full or half reaction volumes and a 3 h incubation reaction. Familial samples consisted of DNA

DNA copy-number measurement of genome replication dynamics by high-throughput sequencing: the sort-seq, sync-seq and MFA-seq family

DG Batrakou, CA Müller, RHC Wilson… - Nature …, 2020 - nature.com
Measuring the DNA copy number genome-wide at time points … and identified by microarrays
or HTS. The enrichment for nascent … Alternatively, follow instructions provided by your …