Population analysis of large copy number variants and hotspots of human genetic disease.

By A. Itsara, Gregory M. Cooper, Carl A. Baker, S. Girirajan, Jun Z. Li, D. Absher, Ronald M. Krauss, Richard M. Myers, P. Ridker, Daniel Chasman and 4 more. American Journal of Human Genetics, 2009

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A Copy Number Variation Morbidity Map of Developmental Delay (2011, neutral): “892 in identifying large CNVs (>100 kb) (with 6/6 and 19/22 validated calls”
A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010, methodology): “We recently performed a genome-wide meta-analysis comparing the frequency of large deletion/duplication events in individuals with neurocognitive or psychiatric disabilities to that in the control populatio”
Missing heritability and strategies for finding the underlying causes of complex disease (2010, background): “The first is the exploration of the landscape and impact of large variants (deletions, duplications and inversions) that are individually rare but collectively common in the human populatio”
Next generation disparities in human genomics: concerns and remedies. (2009, background): “Similarly, Istara et al. found that, in a collection of 2500 individuals, deletions >500 kb were seen in 5–10% of the individuals, and those >1Mb in only 1–2% [ 24 ].”
Trigenomic Bridges for Brassica Improvement (2011, background): “, 2006) or shotgun sequencing (Xie and Tammi, 2009) for analysis of copy number variation, as applied in human genetics (Itsara et al., 2009), may provide a powerful alternative to cytogenetic analysis to detect homeologous chromosome exchanges.”