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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

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