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Global inference of disease-causing single nucleotide variants from exome sequencing data

BACKGROUND: Whole exome sequencing (WES) has recently emerged as an effective approach for identifying genetic variants underlying human diseases. However, considerable time and labour is needed for careful investigation of candidate variants. Although filtration based on population frequencies and...

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Detalles Bibliográficos
Autores principales:	Wu, Mengmeng, Chen, Ting, Jiang, Rui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260102/ https://www.ncbi.nlm.nih.gov/pubmed/28155632 http://dx.doi.org/10.1186/s12859-016-1325-x

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