Publications
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Filters: Author is Lupski, James R and Keyword is Reproducibility of Results [Clear All Filters]
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
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