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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Fromer, Menachem, Purcell, Shaun M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
Schlagworte:
Online Zugang: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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