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Using XHMM software to detect copy number variation in whole-exome sequencing data

Copy number variation (CNV) has emerged as an important genetic component in human diseases, which are increasingly being studied for large numbers of samples by sequencing the coding regions of the genome, i.e., exome sequencing. Nonetheless, detecting this variation from such targeted sequencing d...

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Autors principals: Fromer, Menachem, Purcell, Shaun M.
Format: Artigo
Idioma:Inglês
Publicat: 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065038/
https://ncbi.nlm.nih.gov/pubmed/24763994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg0723s81
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