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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

BACKGROUND: Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants (CNVs) from ES data due to several reasons relat...

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Detalles Bibliográficos
Autores principales:	Rajagopalan, Ramakrishnan, Murrell, Jill R., Luo, Minjie, Conlin, Laura K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993336/ https://www.ncbi.nlm.nih.gov/pubmed/32000839 http://dx.doi.org/10.1186/s13073-020-0712-0

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