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Targeted interrogation of copy number variation using SCIMMkit

Summary: Copy number variants (CNVs) contribute substantially to human genomic diversity, and development of accurate and efficient methods for CNV genotyping is a central problem in exploring human genotype–phenotype associations. SCIMMkit provides a robust, integrated implementation of three previ...

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Autors principals: Zerr, Troy, Cooper, Gregory M., Eichler, Evan E., Nickerson, Deborah A.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796813/
https://ncbi.nlm.nih.gov/pubmed/19846438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btp606
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