An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
VizCNV provides a robust and flexible platform for identification of aneuploidies, CNV, SV discovery and visualization of CNV and BAF data. It is also a useful tool to investigate features of genomic rearrangements such as parental origin which has implications for genetic counseling and mechanistic studies. The tool is freely available through https://doi.org/10.6084/m9.figshare.25869523 .
Authors
- Christopher M. Grochowski (ORCID: https://orcid.org/0000-0002-3884-7720)
- Jesse D. Bengtsson
- Shalini N. Jhangiani
- Sravya Bhamidipati (ORCID: https://orcid.org/0009-0001-4609-8627)
- Sebastian Ochoa (ORCID: https://orcid.org/0000-0001-6334-110X)
- Michele G. Mehaffey
- Haowei Du (ORCID: https://orcid.org/0000-0001-9052-1587)
- Pengfei Liu (ORCID: https://orcid.org/0000-0002-5154-3123)
- Ming Yin Lun
- James Paul Hwang
- Lidiia Gagarina
- Anna Lindstrand
- Jennifer E. Posey
- Ivan K. Chinn
- Claudia M. B. Carvalho
- Donna M. Muzny
- James R. Lupski
- Richard A. Gibbs
- M. Cecilia Poli
Institutions
- Pacific Northwest Diabetes Research Institute (US)
- Karolinska University Hospital (SE)
- Universidad del Desarrollo (CL)
- Baylor College of Medicine (US)
- Karolinska Institutet (SE)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-12-31
- DOI
- https://doi.org/10.1186/s13073-025-01593-8
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82