cluhaowie/VizCNV: VizCNV is an interactive tool designed to analyze and visualize CNVs from short read WGS data in rare disease research. Built on R Studio Shiny, it streamlines the identification of complex genomic rearrangements and facilitates advancements in understanding and diagnosing rare genetic conditions.

This is a shiny app for chromosomal copy number variant analysis. It can
parse the vcf file with SV calls, visualize CNV and B-allele frequency
and genetic phasing information interactively. The VizCNV is still under
active development, suggestions is appreciated.

R version >= 4.2 Following R libraries are required: Shifting level
models based segmentation is performed using
SLMSuite.

Please cite the following article if you use VizCNV in your research:

Du, H., Jolly, A., Grochowski, C. M., Yuan, B., Dawood, M.,
Jhangiani, S. N., Li, H., Muzny, D., Fatih, J. M., Coban-Akdemir, Z.,
Carlin, M. E., Scheuerle, A. E., Witzl, K., Posey, J. E., Pendleton,
M., Harrington, E., Juul, S., Hastings, P. J., Bi, W., … Liu, P.
(2022). The multiple de novo copy number variant (MdnCNV)
phenomenon presents with peri-zygotic DNA mutational signatures and
multilocus pathogenic variation. Genome Medicine, 14(1), 122.

The manuscript of VizCNV is WIP!