ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false positive rates. Here we present ClinSV, a WGS based SV integration, annotation, prioritization...

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Detalles Bibliográficos
Autores principales: Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., Cowley, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908648/
https://www.ncbi.nlm.nih.gov/pubmed/33632298
http://dx.doi.org/10.1186/s13073-021-00841-x

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