ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data

BACKGROUND: A wide range of tools are available for the detection of copy number variants (CNVs) from whole-genome sequencing (WGS) data. However, none of them focus on clinically-relevant CNVs, such as those that are associated with known genetic syndromes. Such variants are often large in size, ty...

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Detalles Bibliográficos
Autores principales: Gudkov, Mikhail, Thibaut, Loïc, Khushi, Matloob, Blue, Gillian M., Winlaw, David S., Dunwoodie, Sally L., Giannoulatou, Eleni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930243/
https://www.ncbi.nlm.nih.gov/pubmed/36792982
http://dx.doi.org/10.1186/s12859-023-05154-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9930243/
https://www.ncbi.nlm.nih.gov/pubmed/36792982
http://dx.doi.org/10.1186/s12859-023-05154-x

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