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RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions

The popularisation and decreased cost of genome resequencing has resulted in an increased use in molecular diagnostics. While there are a number of established and high quality bioinfomatic tools for identifying small genetic variants including single nucleotide variants and indels, currently there...

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Detalles Bibliográficos
Autores principales:	Whitford, Whitney, Lehnert, Klaus, Snell, Russell G., Jacobsen, Jessie C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858463/ https://www.ncbi.nlm.nih.gov/pubmed/31729446 http://dx.doi.org/10.1038/s41598-019-53181-7

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